Inborn errors of metabolism are genetic diseases caused by defects in single enzymes involved in metabolic pathways. This leads to toxic accumulation of substrates or deficiencies in essential compounds. Garrod hypothesized these disorders were due to errors in intermediate metabolism. Examples include disorders of carbohydrate, amino acid, fatty acid, and mitochondrial metabolism. Symptoms depend on the specific pathway affected and can include hypoglycemia, lactic acidosis, and developmental delays. Treatment focuses on preventing toxic accumulations and supplementing deficient compounds.
Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. A birth defect that causes an amino acid called phenylalanine to build up in the body.
Newborns should be screened for PKU.
Untreated phenylketonuria can lead to brain damage, intellectual disabilities, behavioural symptoms or seizures.
Treatment includes a strict diet with limited protein.
This document discusses inborn errors of metabolism. It begins by defining metabolism as the breakdown and building up of molecules through catabolic and anabolic pathways, facilitated by enzymes. Inborn errors of metabolism are disorders caused by mutations that block normal metabolic pathways, resulting in toxic metabolites. The document then classifies different types of inborn errors affecting amino acid, carbohydrate, lipid, protein, and pigment metabolism. It outlines patterns of clinical presentation including encephalopathy, liver disease, dysmorphic features, and neurological symptoms. The document stresses the importance of early metabolic investigations for treating inborn errors.
Inborn errors of metabolism are rare genetic disorders where the body cannot properly break down food into energy due to defects in enzymes. Phenylketonuria is provided as an example, where a defect in the enzyme phenylalanine hydroxylase prevents the breakdown of phenylalanine, causing it to accumulate to toxic levels and resulting in issues like intellectual disability if left untreated. Treatment involves a low-phenylalanine diet from infancy onwards.
Alkaptonuria is a rare inherited disorder caused by a defect in the HGD gene, resulting in a build up of homogentisic acid (HGA) in the body. Symptoms include black urine when exposed to air, joint pain and arthritis, dark spots in the eyes, and discolored skin and earwax. The condition is diagnosed through urine and genetic tests. Treatment focuses on symptom management through medications, therapy, and surgery. A low-protein, high-vitamin C diet is recommended to prevent further HGA build up and slow disease progression.
Metabolic disorders are caused by defects in enzymes involved in metabolic processes. There are several categories of inborn errors of metabolism including disorders of amino acid, carbohydrate, lipid, protein, and organic acid metabolism. Symptoms vary depending on the specific enzyme deficiency but can include developmental delay, organomegaly, neurological symptoms, and in some cases death in infancy if left untreated. Many metabolic disorders are inherited in an autosomal recessive pattern and while individually rare, as a group they have a prevalence of around 1 in 5,000 live births.
An inherited enzyme deficiency leading to the disruption of normal bodily metabolism.
Accumulation of a toxic substrate.
Impaired formation of a product normally produced by the deficient enzyme.
Galactosemia is a rare genetic disorder caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase, which is responsible for breaking down the sugar galactose. This causes galactose and its metabolites to accumulate and can damage the liver, kidneys, and brain if not treated. The only treatment is eliminating all sources of galactose from the diet. If untreated, it can cause complications like cataracts, speech problems, poor bone density, and intellectual disabilities. The document provides details on the causes, types, symptoms, diagnosis, and management of galactosemia.
Galactosemia is a rare genetic metabolic disorder caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase, which is necessary for galactose metabolism. There are three main types depending on the specific enzyme deficiency. It is inherited in an autosomal recessive pattern and causes an inability to properly break down and use the sugar galactose. If left untreated, it can cause serious issues such as liver damage, cataracts, intellectual disabilities and more. Treatment involves a strict lifelong galactose-restricted diet.
Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. A birth defect that causes an amino acid called phenylalanine to build up in the body.
Newborns should be screened for PKU.
Untreated phenylketonuria can lead to brain damage, intellectual disabilities, behavioural symptoms or seizures.
Treatment includes a strict diet with limited protein.
This document discusses inborn errors of metabolism. It begins by defining metabolism as the breakdown and building up of molecules through catabolic and anabolic pathways, facilitated by enzymes. Inborn errors of metabolism are disorders caused by mutations that block normal metabolic pathways, resulting in toxic metabolites. The document then classifies different types of inborn errors affecting amino acid, carbohydrate, lipid, protein, and pigment metabolism. It outlines patterns of clinical presentation including encephalopathy, liver disease, dysmorphic features, and neurological symptoms. The document stresses the importance of early metabolic investigations for treating inborn errors.
Inborn errors of metabolism are rare genetic disorders where the body cannot properly break down food into energy due to defects in enzymes. Phenylketonuria is provided as an example, where a defect in the enzyme phenylalanine hydroxylase prevents the breakdown of phenylalanine, causing it to accumulate to toxic levels and resulting in issues like intellectual disability if left untreated. Treatment involves a low-phenylalanine diet from infancy onwards.
Alkaptonuria is a rare inherited disorder caused by a defect in the HGD gene, resulting in a build up of homogentisic acid (HGA) in the body. Symptoms include black urine when exposed to air, joint pain and arthritis, dark spots in the eyes, and discolored skin and earwax. The condition is diagnosed through urine and genetic tests. Treatment focuses on symptom management through medications, therapy, and surgery. A low-protein, high-vitamin C diet is recommended to prevent further HGA build up and slow disease progression.
Metabolic disorders are caused by defects in enzymes involved in metabolic processes. There are several categories of inborn errors of metabolism including disorders of amino acid, carbohydrate, lipid, protein, and organic acid metabolism. Symptoms vary depending on the specific enzyme deficiency but can include developmental delay, organomegaly, neurological symptoms, and in some cases death in infancy if left untreated. Many metabolic disorders are inherited in an autosomal recessive pattern and while individually rare, as a group they have a prevalence of around 1 in 5,000 live births.
An inherited enzyme deficiency leading to the disruption of normal bodily metabolism.
Accumulation of a toxic substrate.
Impaired formation of a product normally produced by the deficient enzyme.
Galactosemia is a rare genetic disorder caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase, which is responsible for breaking down the sugar galactose. This causes galactose and its metabolites to accumulate and can damage the liver, kidneys, and brain if not treated. The only treatment is eliminating all sources of galactose from the diet. If untreated, it can cause complications like cataracts, speech problems, poor bone density, and intellectual disabilities. The document provides details on the causes, types, symptoms, diagnosis, and management of galactosemia.
Galactosemia is a rare genetic metabolic disorder caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase, which is necessary for galactose metabolism. There are three main types depending on the specific enzyme deficiency. It is inherited in an autosomal recessive pattern and causes an inability to properly break down and use the sugar galactose. If left untreated, it can cause serious issues such as liver damage, cataracts, intellectual disabilities and more. Treatment involves a strict lifelong galactose-restricted diet.
Gaucher disease is an inherited disorder caused by a deficiency of the glucocerebrosidase enzyme, which causes harmful substances to accumulate in organs. There are several types of Gaucher disease. Type 1 is the most common and usually does not affect the nervous system. Types 2 and 3 do affect the nervous system and can cause neurological problems. Symptoms vary depending on type but may include bone and organ enlargement, fatigue, easy bruising, and lung and heart problems. Diagnosis involves blood tests, imaging, and genetic testing. Treatment options include enzyme replacement therapy and bone marrow transplant for severe cases.
Homocystinuria is a disorder of methionine metabolism, leading to an abnormal accumulation of homocysteine and its metabolites (homocystine, homocysteine-cysteine complex, and others) in blood and urine. Normally, these metabolites are not found in appreciable quantities in blood or urine.
Galactosemia is a genetic disorder where the body cannot break down galactose, a sugar found in milk. This causes galactose to build up and potentially damage the brain, eyes, liver and kidneys. The only treatment is a lifelong galactose-restricted diet that avoids foods containing lactose or milk products. Strict adherence to the diet can prevent complications, which may include speech delays, movement problems and eye cataracts.
Alkaptonuria is a rare genetic metabolic disorder characterized by the accumulation of homogentisic acid in the body. Affected individuals lack enough functional levels of an enzyme required to breakdown homogentisic acid. Affected individuals may have dark urine or urine that turns black when exposed to air.
This document discusses prenatal diagnosis, which involves procedures to diagnose genetic abnormalities or structural issues in an embryo or fetus. Prenatal diagnosis allows for timely medical care or decisions about continuing the pregnancy. It can be done through invasive methods like amniocentesis that have a small risk of miscarriage, or non-invasive ultrasound or blood tests. The most common reasons for prenatal diagnosis are advanced maternal age, family histories of genetic conditions, or high-risk pregnancies. It is used to screen for issues like Down syndrome, neural tube defects, and identify structural abnormalities.
This document discusses various inborn errors of metabolism including phenylketonuria, alkaptonuria, homocystinuria, galactosemia, glycogen storage diseases, mucopolysaccharidoses, Gaucher disease, Niemann-Pick disease, cystic fibrosis, and Wilson's disease. It describes the genetic defects, clinical features, diagnostic tests, and morphological findings for each condition. These hereditary biochemical disorders result from mutations that compromise the function of enzymes or other proteins involved in metabolic pathways.
This document discusses inherited metabolic disorders (IMDs), also known as inborn errors of metabolism. IMDs are caused by enzyme deficiencies that disrupt normal metabolism, leading to the accumulation of toxic substrates. Common symptoms include neurological deterioration, metabolic acidosis, hypoglycemia, and more. The document focuses on phenylketonuria (PKU) and galactosemia as examples. PKU is caused by a lack of the enzyme phenylalanine hydroxylase, causing phenylalanine to accumulate and damage the brain if left untreated. Galactosemia results from a lack of the GALT enzyme, causing galactose toxicity if dairy is consumed. Both require life-long dietary restrictions to restrict intake of
Phenylketonuria (PKU) is a genetic disorder caused by a mutation that prevents the breakdown of phenylalanine. This allows phenylalanine levels to accumulate in the blood and brain, which can cause intellectual disabilities if left untreated. The condition is usually diagnosed via newborn screening, which tests for high phenylalanine levels. Treatment requires a lifelong low-phenylalanine diet to prevent cognitive issues and other health problems associated with elevated phenylalanine. Strict dietary control is necessary to manage PKU and avoid complications.
Glycogen storage disorders are a group of inherited metabolic disorders caused by deficiencies in enzymes involved in glycogen synthesis or breakdown. There are several types classified by the affected enzyme and tissue. Type I, Von Gierke's disease, is caused by glucose-6-phosphatase deficiency affecting the liver and kidneys, leading to organ enlargement, high lactate levels, and gout. Type II, Pompe's disease, results from acid maltase deficiency impacting many tissues including heart, liver, and muscles. Symptoms range from cardiac failure in infants to late-onset muscle weakness. Treatment may include enzyme replacement therapy or diet modification.
Lesch-Nyhan syndrome is a rare, inherited disorder caused by a deficiency of the HPRT enzyme. It is characterized by overproduction of uric acid leading to physical issues like kidney stones and neurological effects such as cognitive impairment and self-mutilation. There is no cure, and treatment focuses on managing symptoms. Prognosis is generally poor due to the neurological disabilities associated with the condition.
This document provides an overview of genetic disorders including their causes, inheritance, diagnosis, and treatment. It discusses how genetic disorders occur due to mutations in genes that affect protein production. Diagnosis involves examining family histories, conducting genetic tests, and looking for characteristic physical features. Common genetic disorders like Down syndrome, Huntington's disease, and Duchenne muscular dystrophy are described. Treatment focuses on managing symptoms while prognosis depends on the specific disorder. The objectives are to help audiences understand genetic disorders, inheritance patterns, diagnosis strategies and common examples.
Maple syrup urine disease (MSUD) is a rare metabolic disorder caused by a deficiency of the enzyme branched-chain keto acid dehydrogenase (BCKDH), which is required to break down the branched-chain amino acids leucine, valine, and isoleucine. This causes an accumulation of these amino acids in the blood and urine, giving urine a characteristic maple syrup smell. MSUD is treated through a carefully controlled diet low in these amino acids and supplementation to maintain metabolic control. Without treatment, MSUD can cause neurological damage and is often fatal within the first month of life.
October is the global awareness month of Niemann-Pick Disease (NPD), a fatal inherited metabolic disorder. Hence, I am sharing a presentation I made on NPD in 2013 in this month of 2016.
Sickle cell anemia is a genetic blood disorder caused by a mutation in the gene for hemoglobin. In 1904, Dr. James Herrick first observed sickle-shaped red blood cells in an African American patient, which led to the discovery and naming of the disease. The mutation causes hemoglobin to form rigid sickle shapes under low oxygen conditions, which can block blood flow and damage organs. Individuals with two copies of the mutation experience symptoms while carriers with one copy are resistant to malaria.
Lactose intolerance is caused by a deficiency in the enzyme lactase, which breaks down lactose found in milk. Symptoms include abdominal bloating, cramps, diarrhea and nausea. There are three main types of lactase deficiency - primary, which is genetically determined and more common in non-Caucasian groups as adults; secondary, caused by intestinal damage; and congenital, a very rare disorder preventing lactase expression from birth. Treatment involves avoiding lactose-containing foods and using alternative milk products that are naturally lactose-free.
The document discusses inborn errors of metabolism (IEM). It describes IEM as metabolic disorders caused by enzyme deficiencies that disrupt biochemical reactions in the body. IEM are divided into subgroups that affect amino acid, carbohydrate, lipid, and other metabolisms. Symptoms seen in affected individuals can include lethargy, vomiting, seizures, skin abnormalities, organomegaly, and neurological or developmental issues. Diagnosis involves laboratory tests of blood and urine to identify specific metabolic abnormalities. Treatment aims to correct acute issues like acidosis or hypoglycemia and provide enzyme replacement or precursors to bypass the metabolic block.
Mitochondrial diseases are caused by defects in mitochondrial structure or enzymes that result in deficient energy production. They can affect multiple organ systems and occur across all age groups. Mitochondrial DNA mutations can be inherited from the mother and nuclear DNA mutations can affect mitochondrial proteins or DNA maintenance. Common mitochondrial diseases include MELAS, MERRF, and Leigh syndrome. Mitochondrial dysfunction has also been implicated in aging and common diseases like heart disease and Parkinson's.
Inborn errors of metabolism- focusing on its predominant adult onset forms, neurological perspective, clinical & biochemical approach to diagnosis, and neuroimaging findings.
This document discusses the diagnosis and management of inborn errors of metabolism (IEM) in neonates. Key points include:
- IEM are individually rare but collectively affect about 1 in 5,000 live births.
- Presentation can range from gradual to sudden to catastrophic and may mimic other conditions like infection.
- Initial labs should check for metabolic acidosis, hyperammonemia, and hypoglycemia to help identify treatable disorders.
- Life-threatening conditions require stabilizing the neonate before identifying the specific IEM through additional tests and specialist consultation. Management aims to correct acidosis/electrolytes, provide calories, remove toxic metabolites, and treat any underlying precipitants
Gaucher disease is an inherited disorder caused by a deficiency of the glucocerebrosidase enzyme, which causes harmful substances to accumulate in organs. There are several types of Gaucher disease. Type 1 is the most common and usually does not affect the nervous system. Types 2 and 3 do affect the nervous system and can cause neurological problems. Symptoms vary depending on type but may include bone and organ enlargement, fatigue, easy bruising, and lung and heart problems. Diagnosis involves blood tests, imaging, and genetic testing. Treatment options include enzyme replacement therapy and bone marrow transplant for severe cases.
Homocystinuria is a disorder of methionine metabolism, leading to an abnormal accumulation of homocysteine and its metabolites (homocystine, homocysteine-cysteine complex, and others) in blood and urine. Normally, these metabolites are not found in appreciable quantities in blood or urine.
Galactosemia is a genetic disorder where the body cannot break down galactose, a sugar found in milk. This causes galactose to build up and potentially damage the brain, eyes, liver and kidneys. The only treatment is a lifelong galactose-restricted diet that avoids foods containing lactose or milk products. Strict adherence to the diet can prevent complications, which may include speech delays, movement problems and eye cataracts.
Alkaptonuria is a rare genetic metabolic disorder characterized by the accumulation of homogentisic acid in the body. Affected individuals lack enough functional levels of an enzyme required to breakdown homogentisic acid. Affected individuals may have dark urine or urine that turns black when exposed to air.
This document discusses prenatal diagnosis, which involves procedures to diagnose genetic abnormalities or structural issues in an embryo or fetus. Prenatal diagnosis allows for timely medical care or decisions about continuing the pregnancy. It can be done through invasive methods like amniocentesis that have a small risk of miscarriage, or non-invasive ultrasound or blood tests. The most common reasons for prenatal diagnosis are advanced maternal age, family histories of genetic conditions, or high-risk pregnancies. It is used to screen for issues like Down syndrome, neural tube defects, and identify structural abnormalities.
This document discusses various inborn errors of metabolism including phenylketonuria, alkaptonuria, homocystinuria, galactosemia, glycogen storage diseases, mucopolysaccharidoses, Gaucher disease, Niemann-Pick disease, cystic fibrosis, and Wilson's disease. It describes the genetic defects, clinical features, diagnostic tests, and morphological findings for each condition. These hereditary biochemical disorders result from mutations that compromise the function of enzymes or other proteins involved in metabolic pathways.
This document discusses inherited metabolic disorders (IMDs), also known as inborn errors of metabolism. IMDs are caused by enzyme deficiencies that disrupt normal metabolism, leading to the accumulation of toxic substrates. Common symptoms include neurological deterioration, metabolic acidosis, hypoglycemia, and more. The document focuses on phenylketonuria (PKU) and galactosemia as examples. PKU is caused by a lack of the enzyme phenylalanine hydroxylase, causing phenylalanine to accumulate and damage the brain if left untreated. Galactosemia results from a lack of the GALT enzyme, causing galactose toxicity if dairy is consumed. Both require life-long dietary restrictions to restrict intake of
Phenylketonuria (PKU) is a genetic disorder caused by a mutation that prevents the breakdown of phenylalanine. This allows phenylalanine levels to accumulate in the blood and brain, which can cause intellectual disabilities if left untreated. The condition is usually diagnosed via newborn screening, which tests for high phenylalanine levels. Treatment requires a lifelong low-phenylalanine diet to prevent cognitive issues and other health problems associated with elevated phenylalanine. Strict dietary control is necessary to manage PKU and avoid complications.
Glycogen storage disorders are a group of inherited metabolic disorders caused by deficiencies in enzymes involved in glycogen synthesis or breakdown. There are several types classified by the affected enzyme and tissue. Type I, Von Gierke's disease, is caused by glucose-6-phosphatase deficiency affecting the liver and kidneys, leading to organ enlargement, high lactate levels, and gout. Type II, Pompe's disease, results from acid maltase deficiency impacting many tissues including heart, liver, and muscles. Symptoms range from cardiac failure in infants to late-onset muscle weakness. Treatment may include enzyme replacement therapy or diet modification.
Lesch-Nyhan syndrome is a rare, inherited disorder caused by a deficiency of the HPRT enzyme. It is characterized by overproduction of uric acid leading to physical issues like kidney stones and neurological effects such as cognitive impairment and self-mutilation. There is no cure, and treatment focuses on managing symptoms. Prognosis is generally poor due to the neurological disabilities associated with the condition.
This document provides an overview of genetic disorders including their causes, inheritance, diagnosis, and treatment. It discusses how genetic disorders occur due to mutations in genes that affect protein production. Diagnosis involves examining family histories, conducting genetic tests, and looking for characteristic physical features. Common genetic disorders like Down syndrome, Huntington's disease, and Duchenne muscular dystrophy are described. Treatment focuses on managing symptoms while prognosis depends on the specific disorder. The objectives are to help audiences understand genetic disorders, inheritance patterns, diagnosis strategies and common examples.
Maple syrup urine disease (MSUD) is a rare metabolic disorder caused by a deficiency of the enzyme branched-chain keto acid dehydrogenase (BCKDH), which is required to break down the branched-chain amino acids leucine, valine, and isoleucine. This causes an accumulation of these amino acids in the blood and urine, giving urine a characteristic maple syrup smell. MSUD is treated through a carefully controlled diet low in these amino acids and supplementation to maintain metabolic control. Without treatment, MSUD can cause neurological damage and is often fatal within the first month of life.
October is the global awareness month of Niemann-Pick Disease (NPD), a fatal inherited metabolic disorder. Hence, I am sharing a presentation I made on NPD in 2013 in this month of 2016.
Sickle cell anemia is a genetic blood disorder caused by a mutation in the gene for hemoglobin. In 1904, Dr. James Herrick first observed sickle-shaped red blood cells in an African American patient, which led to the discovery and naming of the disease. The mutation causes hemoglobin to form rigid sickle shapes under low oxygen conditions, which can block blood flow and damage organs. Individuals with two copies of the mutation experience symptoms while carriers with one copy are resistant to malaria.
Lactose intolerance is caused by a deficiency in the enzyme lactase, which breaks down lactose found in milk. Symptoms include abdominal bloating, cramps, diarrhea and nausea. There are three main types of lactase deficiency - primary, which is genetically determined and more common in non-Caucasian groups as adults; secondary, caused by intestinal damage; and congenital, a very rare disorder preventing lactase expression from birth. Treatment involves avoiding lactose-containing foods and using alternative milk products that are naturally lactose-free.
The document discusses inborn errors of metabolism (IEM). It describes IEM as metabolic disorders caused by enzyme deficiencies that disrupt biochemical reactions in the body. IEM are divided into subgroups that affect amino acid, carbohydrate, lipid, and other metabolisms. Symptoms seen in affected individuals can include lethargy, vomiting, seizures, skin abnormalities, organomegaly, and neurological or developmental issues. Diagnosis involves laboratory tests of blood and urine to identify specific metabolic abnormalities. Treatment aims to correct acute issues like acidosis or hypoglycemia and provide enzyme replacement or precursors to bypass the metabolic block.
Mitochondrial diseases are caused by defects in mitochondrial structure or enzymes that result in deficient energy production. They can affect multiple organ systems and occur across all age groups. Mitochondrial DNA mutations can be inherited from the mother and nuclear DNA mutations can affect mitochondrial proteins or DNA maintenance. Common mitochondrial diseases include MELAS, MERRF, and Leigh syndrome. Mitochondrial dysfunction has also been implicated in aging and common diseases like heart disease and Parkinson's.
Inborn errors of metabolism- focusing on its predominant adult onset forms, neurological perspective, clinical & biochemical approach to diagnosis, and neuroimaging findings.
This document discusses the diagnosis and management of inborn errors of metabolism (IEM) in neonates. Key points include:
- IEM are individually rare but collectively affect about 1 in 5,000 live births.
- Presentation can range from gradual to sudden to catastrophic and may mimic other conditions like infection.
- Initial labs should check for metabolic acidosis, hyperammonemia, and hypoglycemia to help identify treatable disorders.
- Life-threatening conditions require stabilizing the neonate before identifying the specific IEM through additional tests and specialist consultation. Management aims to correct acidosis/electrolytes, provide calories, remove toxic metabolites, and treat any underlying precipitants
Chromosomal abnormalities can be either numerical, involving an abnormal number of chromosomes, or structural, involving changes in a chromosome's structure. Numerical abnormalities include conditions like Down syndrome which is caused by an extra copy of chromosome 21. Structural abnormalities include deletions, duplications, translocations, inversions, and insertions which alter chromosomes by removing, adding, or rearranging genetic material. Chromosomal anomalies can be inherited from a parent or occur de novo, and can affect an individual's cells mosaicly or in all cells.
Inborn errors of metabolism are caused by single gene mutations that alter protein structure or amount synthesized. They can range from mild to lethal. Most are autosomal recessive but some like ornithine transcarbamylase deficiency are X-linked. Metabolic disorders are classified by clinical presentation, age of onset, tissues involved, and defective pathways. Common types include amino acid disorders, organic acidurias, lysosomal storage disorders, and fatty acid oxidation defects. Treatment approaches include restricting intake of toxic substances, increasing excretion of metabolites, enzyme replacement therapy, substrate reduction, and transplantation.
The document discusses key concepts from kinetic theory of gases and thermodynamics. It defines kinetic theory of gases as describing gas as particles in random motion that collide with each other and container walls. This explains macroscopic gas properties like pressure. It then outlines Maxwell-Boltzmann distribution and related equations that describe the distribution of molecular speeds at a given temperature. The document also summarizes the four laws of thermodynamics, including definitions of entropy, Carnot cycle efficiency, and applications of thermodynamic concepts.
The human Y chromosome is much smaller than the X chromosome, containing only about 58 million base pairs and 86 genes compared to the X chromosome's 1,500 genes. Over time, most of the Y chromosome has stopped recombining with the X during meiosis, leaving only small regions at the ends that still recombine. As a result, the Y chromosome has lost over 1,300 genes and is degrading, with the potential to lose all function in 10 million years if the rate of gene loss continues. The small size and inability to recombine makes the Y chromosome highly prone to accumulating mutations and "junk DNA" with no way to remove harmful sequences.
Ketone bodies are produced when there is an imbalance between lipid and carbohydrate metabolism. This can occur during prolonged fasting, very low carbohydrate diets, or diabetic conditions where glucose cannot be processed. The liver produces ketone bodies from acetyl-CoA to balance excess fatty acid breakdown. The three ketone bodies are acetoacetate, beta-hydroxybutyrate, and acetone. Ketone bodies accumulate in the blood and are excreted in urine, potentially causing ketoacidosis with associated symptoms like headache, dry mouth, and foul breath. Severe ketoacidosis can lead to coma and death if not addressed.
The document discusses the human Y chromosome. It notes that the Y chromosome contains 58 million base pairs, comprises 1% of the DNA in a male cell, and contains 86 genes that code for 23 proteins. It is smaller than the X chromosome and does not recombine with it except in small pseudoautosomal regions. The bulk of the Y chromosome that does not recombine is called the non-recombining region.
Photophosphorylation is the process by which ATP is created using energy from sunlight. It involves the creation of a proton gradient across a membrane via the electron transport chain, similar to respiration. However, since the proton gradient formation is light-dependent, it is called photophosphorylation. Proton movement across the membrane powers ATP synthase enzymes to join ADP and Pi to make ATP.
Variations in chromosomal number include euploidy, which is the usual number of chromosomes, polyploidy which is three or more complete sets of chromosomes, and aneuploidy which is an additional or missing individual chromosome. Aneuploidy in humans can result in syndromes like Trisomy 13, Down Syndrome, Turner Syndrome, and Klinefelter Syndrome, which are characterized by developmental delays, physical abnormalities, and infertility.
This document discusses different types of chromosomal aberrations including numerical and structural abnormalities. Numerical abnormalities refer to changes in the number of chromosomes such as aneuploidy (extra or missing chromosome) and polyploidy (multiple sets of chromosomes). Structural abnormalities result from breaks in chromosomes and include deletions, insertions, inversions, translocations, and ring chromosomes. Specific chromosomal disorders caused by numerical and structural changes like Down syndrome, Turner syndrome, and Klinefelter syndrome are also described.
This document discusses key aspects of chromosomes including their definition, history, structure, composition, size, shape, and number. Some main points:
- Chromosomes are rod-shaped structures that contain DNA and protein. They were first observed in 1875 and are best seen during cell division.
- Eukaryotic chromosomes vary in size from 0.5-7μm and can be rod-shaped, J-shaped, or V-shaped depending on centromere position. Each species has a distinct somatic and genetic chromosome number.
- Chromosomes are made up of DNA, RNA, and proteins. DNA provides the genetic code. Histone proteins make up 80% of chromosomal protein while non-
This document discusses numerical chromosomal aberrations. It defines euploidy as having an exact multiple of the haploid chromosome number, and aneuploidy as having more or less than the euploid number. The main types of euploidy are monoploidy, diploidy, and polyploidy. Polyploidy can be autopolyploidy, with identical chromosome sets, or allopolyploidy involving chromosomes from different species. Aneuploidy includes hypoploidy, with fewer chromosomes, and hyperploidy, with extras. Specific aneuploid conditions discussed are monosomy, nullisomy, trisomy, and tetrasomy.
Gluconeogenesis is the process by which glucose is synthesized from non-carbohydrate precursors like lactate, glycerol, and certain amino acids. It mainly takes place in the liver and kidneys. Key steps involve the conversion of pyruvate to oxaloacetate and regulation of enzymes like PEP carboxykinase and fructose-1,6-bisphosphatase. Gluconeogenesis is important for maintaining blood glucose levels during fasting or starvation when carbohydrate sources are limited.
Este documento describe los procesos de gluconeogénesis y glucogenolisis. La gluconeogénesis ocurre principalmente en el hígado y convierte precursores como propionato, glicerol y lactato en glucosa. Está regulada por enzimas como la piruvato carboxilasa, la fructosa-1,6-bifosfatasa y la glucosa-6-fosfatasa. La glucogenolisis libera glucosa almacenada como glucógeno en el hígado mediante la fosforilasa. La insulina y el glucagon
Ppt on karyotyping, chromosome banding and chromosome painting.ICRISAT
This document provides an overview of karyotyping, chromosome banding, and chromosome painting techniques. It discusses how karyotyping involves arranging chromosomes based on size and centromere position. Different banding techniques like Q, G, N, and C banding stain chromosomes to reveal structural features. Chromosome painting uses fluorescent probes to identify chromosomes and chromosomal abnormalities. These techniques allow studying chromosome structure, identifying defects, and analyzing evolutionary changes.
The document summarizes the process of beta-oxidation of fatty acids. It occurs in the mitochondrial matrix in four steps - oxidation, hydration, oxidation, and cleavage - resulting in the sequential removal of two-carbon acetyl-CoA units. Fatty acids are first activated to acyl-CoAs in the cytosol then transported into the mitochondria by the carnitine shuttle system to undergo beta-oxidation, generating acetyl-CoA, NADH, and FADH2. Defects in this process can cause various metabolic disorders like fatty acid oxidation disorders.
This document discusses chromosomal abnormalities, including both numerical and structural abnormalities. It provides examples of various chromosomal abnormalities such as trisomy 21 (Down syndrome), trisomy 18, trisomy 13 (Patau syndrome), Turner syndrome, and Klinefelter syndrome. It also discusses methods used in cytogenetic analysis such as karyotyping, G-banding, fluorescent in situ hybridization (FISH), and spectral karyotyping. Overall, the document provides an overview of common chromosomal abnormalities and the techniques used to identify them.
For this assignment, we were instructed to create a powerpoint presentation of at least 12 slides that adequately covered an academic subject of our choice. All sources for media is cited in the work cited at the end of the presentation.
Inbornerrorsofmetabolism 120429124218-phpapp01 (4) (1)keerthi samuel
Inborn errors of metabolism are genetic disorders involving defects in metabolic pathways. Common types include disorders of carbohydrate metabolism like glycogen storage disease, amino acid metabolism like phenylketonuria, and organic acid metabolism. Symptoms result from substrate accumulation or product deficiency. Treatment focuses on dietary management to control metabolite levels and prevent complications like hypoglycemia, organ damage, and neurological decline. Strict dietary therapy and monitoring are needed lifelong for many of these inherited metabolic diseases.
EMs can be classified into two broad categories: those that affect energy production, and those that affect the synthesis or degradation of specific molecules or compounds. The majority of IEMs are due to defects of single genes that code for enzymes that facilitate conversion of various substances into others. IEMs can be diagnosed with:
Blood tests, Urine tests, Physical exams, Metabolic testing, Genetic testing, Amniocentesis, Glucose testing, and Eye exams.
Early diagnosis of IEMs can prevent the onset of severe clinical symptoms. Treatment is tailored to the specific disorder once a diagnosis is made. In general, the goals of treatment are to minimize or eliminate the buildup of toxic metabolites that result from the block in metabolism while maintaining growth and development. Treatment can include: Changing your diet, Taking medicine, Dialysis, and Organ transplant.
EMs can be classified into two broad categories: those that affect energy production, and those that affect the synthesis or degradation of specific molecules or compounds. The majority of IEMs are due to defects of single genes that code for enzymes that facilitate conversion of various substances into others. IEMs can be diagnosed with:
Blood tests, Urine tests, Physical exams, Metabolic testing, Genetic testing, Amniocentesis, Glucose testing, and Eye exams.
Early diagnosis of IEMs can prevent the onset of severe clinical symptoms. Treatment is tailored to the specific disorder once a diagnosis is made. In general, the goals of treatment are to minimize or eliminate the buildup of toxic metabolites that result from the block in metabolism while maintaining growth and development. Treatment can include: Changing your diet, Taking medicine, Dialysis, and Organ transplant.
EMs can be classified into two broad categories: those that affect energy production, and those that affect the synthesis or degradation of specific molecules or compounds. The majority of IEMs are due to defects of single genes that code for enzymes that facilitate conversion of various substances into others. IEMs can be diagnosed with:
Blood tests, Urine tests, Physical exams, Metabolic testing, Genetic testing, Amniocentesis, Glucose testing, and Eye exams.
Early diagnosis of IEMs can prevent the onset of severe clinical symptoms. Treatment is tailored to the specific disorder once a diagnosis is made. In general, the goals of treatment are to minimize or eliminate the buildup of toxic metabolites that result from the block in metabolism while maintaining growth and development. Treatment can include: Changing your diet, Taking medicine, Dialysis, and Organ transplant.
EMs can be classified into two broad categories: those that affect energy production, and those that affect the synthesis or degradation of specific molecules or compounds. The majority of IEMs are due to defects of single genes that code for enzymes that facilitate conversion of various substances into others. IEMs can be diagnosed w
Glycogen storage disease (GSD) occurs due to defects in enzymes involved in glycogen synthesis or breakdown, leading to excess glycogen storage. There are 11 known types classified by the affected enzyme and tissue. Symptoms vary by type but can include hypoglycemia, liver and muscle involvement, and exercise intolerance. Treatment depends on type and may include dietary changes, enzyme replacement therapy, or liver transplantation. Prenatal testing is available for some types.
1. Diabetes mellitus is a metabolic disorder characterized by high blood glucose due to insulin deficiency or resistance. It affects carbohydrate, fat, and protein metabolism and can cause serious complications if left untreated.
2. There are four main types of diabetes: type 1 caused by lack of insulin; type 2 caused by insulin resistance; gestational diabetes during pregnancy; and other rare forms.
3. Management involves lifestyle changes like diet, exercise and weight control as well as pharmacological therapy with insulin or oral drugs depending on the type of diabetes.
This document discusses the approach to hypoglycemia in childhood. It begins by defining hypoglycemia and describing the importance of glucose for brain development. It then discusses the pathophysiology of hypoglycemia, focusing on how the body maintains blood glucose levels through glycogenolysis, gluconeogenesis, and lipolysis. The clinical features of hypoglycemia are presented, distinguishing between sympathetic overactivity and neuroglycopenic symptoms. Common etiologies like hyperinsulinism, metabolic disorders, and systemic illnesses are outlined. The document concludes with recommendations for investigating hypoglycemia, managing acute episodes, and treating underlying causes to prevent long-term neurological consequences.
This document discusses the approach to hypoglycemia in childhood. It begins by defining hypoglycemia and describing the importance of glucose for brain development. It then discusses the pathophysiology of hypoglycemia, focusing on how the body maintains blood glucose levels through glycogenolysis, gluconeogenesis, and lipolysis. The clinical features of hypoglycemia are presented, distinguishing between sympathetic overactivity and neuroglycopenic symptoms. Common etiologies like hyperinsulinism, metabolic disorders, and systemic illnesses are outlined. The document concludes with recommendations for investigating hypoglycemia, managing acute episodes, and treating underlying causes to prevent long-term neurological consequences.
The document summarizes several metabolic pathways including the hexose monophosphate shunt (HMP shunt), glycogen metabolism, glycogen storage diseases, and gluconeogenesis. The HMP shunt produces pentose and NADPH which are needed for biosynthesis. It is less active in muscles and more active in leukocytes where NADPH is used to produce radicals. Glucose-6-phosphate dehydrogenase deficiency is an X-linked genetic disorder where a defective enzyme causes red blood cell breakdown. Glycogen is the stored form of carbohydrates and is broken down by enzymes into glucose for energy. Glycogen storage diseases occur when enzymes are missing, causing glycogen to build up abnormally. Gl
This document discusses the pathogenesis and etiology of metabolic disorders, including disorders of carbohydrate and lipid metabolism. It covers several key points:
1. Metabolic disorders can be caused by genetic factors like enzymopathies, damage to membranes/receptors, endocrine dysfunction, and neural impairment.
2. Dietary and digestive issues as well as other organ dysfunction can also contribute to metabolic disorders.
3. Glucose regulation is maintained through a balance of insulin and counter-regulatory hormones like glucagon, with disorders resulting in hyperglycemia or hypoglycemia.
4. The two primary types of diabetes mellitus - type 1 and type 2 - differ in etiology and pathogenesis
GLYCOGEN STORAGE DISEASE , GSD , Von Gierke DiseaseRAHUL KATARIA
Detailed presentation about glycogen storage disease.
description about all types of GSDs like .
1. GSD I
2.GSD III
3. GSD IV
4. GSD VI
5. GSD IX
6. GSD 0
Glycogen storage disease is a metabolic disorder caused by enzyme deficiencies affecting glycogen synthesis, breakdown, or glucose breakdown in muscles and liver cells. It can be genetic or acquired. Genetic glycogen storage disease is caused by inherited errors in metabolism resulting in defective enzymes, while acquired glycogen storage disease in livestock is caused by castanospermine intoxication. Some examples of genetic glycogen storage diseases include Von Gierke's disease, Pompe's disease, Cori's disease, and Anderson disease. Polyglucosan body disease/amylopectinosis is an extremely rare hereditary metabolic disorder caused by absence of the enzyme amylo-1,4,1,6-transglucosidase, which
This document discusses various nutritional diseases and deficiencies. It begins by defining nutritional diseases as conditions caused by nutrient deficiencies or excesses. It then examines protein-energy malnutrition (PEM) in detail, describing marasmus and kwashiorkor. It explains biochemically how insulin and glucagon imbalances in PEM can lead to distended abdomens. The document also briefly discusses carbohydrate deficiency and ketosis, as well as omega-3 and omega-6 fatty acid deficiencies. It concludes by assigning students to create a note on vitamin deficiencies, explaining the diseases, signs/symptoms, and biochemical basis.
Carbohydrate & lipid metabolism in children age, semiotics of disturbancesEneutron
The document discusses peculiarities of carbohydrate and lipid metabolism in childhood. It covers topics like carbohydrate and fat digestion, absorption and roles in the body. It also summarizes disturbances like diabetes, lactose intolerance, galactosemia and glycogen storage diseases. Peculiarities of carbohydrate and lipid metabolism in fetuses and children at different ages are also outlined.
Cells can accumulate various substances intracellularly due to pathological or physiological processes. Accumulations may be reversible or irreversible and can occur through several mechanisms, including abnormal metabolism of endogenous substances, lack of metabolism of normal or abnormal substances, or deposition of exogenous substances. Common types of intracellular accumulations include fat, proteins, glycogen, and pigments. Fatty change is seen most commonly in the liver but can occur in other organs as well. Accumulation of fat in liver cells can be caused by excessive fatty acids, impaired fatty acid metabolism, or decreased apoprotein synthesis and can progress to liver fibrosis or cirrhosis if severe. Glycogen accumulation occurs in diseases of glycogen metabolism like glycogen storage diseases. Protein accumulation
The document discusses endocrine disorders and focuses on diabetes mellitus. It defines the endocrine system and describes how hormones are secreted and transported. It then discusses the different types of diabetes (type 1, type 2, gestational), their causes and pathophysiology. Type 1 diabetes results from an autoimmune destruction of insulin-producing pancreatic beta cells, leading to little or no insulin production. This causes unchecked glucose production and fasting/postprandial hyperglycemia.
Carbohydrate metabolism involves the breakdown and use of carbohydrates like glucose and glycogen. Glucose is broken down through glycolysis which occurs in the cytoplasm and produces energy. Glycolysis is the first step in both aerobic and anaerobic respiration. Glycogen is stored in the liver and muscles as a source of glucose. Fructose and galactose are other carbohydrates that are metabolized and converted to glucose. Hormones like insulin and glucagon tightly regulate blood glucose levels. Diabetes occurs when blood glucose levels are too high due to issues with insulin production or sensitivity.
A research including most disorders concerned with the inborn (neonates) including:
Malnutrition / Nutrition disorders
Congenital renal disorders
Inborn metabolic errors
congenital liver disorders (Cigler Najar syndrome - Rotor syndrome - Dubin johnson syndrome) and others ...
Effect of Socio-demographic Factors and Obesity in Blood Pressure Mohammed Ellulu
This study examined the effect of socio-demographic factors and obesity on blood pressure among adults in Gaza, Palestine. The study found that having a diseased mother, being obese, living in a large family, and having hypertension or both hypertension and diabetes were significant risk factors associated with high blood pressure. Specifically, participants with a diseased mother had 1.8 times higher odds of high blood pressure, obese participants had 2.7 times higher odds, those in large families had 0.6 times lower odds, and those with hypertension or both hypertension and diabetes had 5.0 or 2.7 times higher odds, respectively, of high blood pressure.
1) Vitamin D is produced in the skin from sunlight exposure and is also obtained in small amounts from dietary sources like fatty fish.
2) In the liver and kidneys, vitamin D is activated to its biological form which acts to regulate calcium and phosphate levels in the body by increasing their absorption in the intestines and mobilization from bones.
3) Vitamin D deficiency can lead to rickets in children and osteomalacia in adults, characterized by soft, weak bones due to poor mineralization.
Iodine is essential for thyroid hormone production and is obtained through foods like seaweed and seafood or iodized salt. Iodine deficiency can cause goiter and irreversible intellectual and growth impairments while excess iodine can inhibit the thyroid. Various indicators are used to assess iodine status including urinary iodine and thyroid size. Iodine interacts with medications for hyperthyroidism and high blood pressure and deficiencies in selenium or vitamins A, E, zinc and iron can exacerbate effects of iodine deficiency.
The document discusses the requirements for nutrition labeling on food packages. It must follow FDA regulations and contain information on nutrients like carbohydrates, proteins, fats, fibers, sugars, minerals, vitamins, sodium, and cholesterol. The nutrition facts label lists the serving size first, then calories, macronutrients, micronutrients, and other components in a specific order.
Glycine and serine are both non-essential amino acids that can be synthesized in the body. Glycine is the smallest amino acid and is important for muscle tissue, central nervous system function, and collagen formation. Serine participates in biosynthesis of other amino acids and metabolites and has structural and signaling roles in enzymes and neurotransmitters. Both amino acids share metabolic pathways and deficiencies can impact growth and development. Studies show glycine and serine may help with sleep, fight cancer cell growth, and reduce osteoarthritis symptoms.
The document discusses the relationship between high protein diets and chronic kidney disease. It notes that while short term increases in protein intake lead to hyperfiltration as a normal adaptive response, long term high intake can stress the kidneys and promote disease through increased glomerular pressure and filtration. However, protein-induced changes appear to be well tolerated in healthy individuals without underlying metabolic issues. The document concludes that protein intake appears to pose little risk to kidney function as long as one's kidneys are healthy.
Vital signs are physical measurements that indicate whether an individual is alive and include heart rate, breathing rate, temperature, blood pressure, and oxygen saturation. They are affected by factors like age, sex, weight, exercise, and medical conditions. Vital signs are usually measured when patients are admitted to healthcare facilities, experience changes in health status, before and after medical procedures, and every 4 hours for patients with specific conditions. Abnormal vital signs include fever, very high or low temperature, fast or slow heart rate or breathing, and high or low blood pressure.
This document provides information about the muscular system, including the different types of muscles and their functions. It describes the characteristics of skeletal muscles and how they are named based on their size, location, direction, number of origins, and shape. Examples are provided to illustrate muscle naming conventions. The functions of muscles are also outlined. An overview is given of the muscles involved in moving different parts of the body like the head/neck, vertebral column, upper limbs, forearms/hands, and lower limbs.
The document is a lecture on the skeletal system presented to occupational therapy students. It covers the main functions of the skeletal system which are support, protection, movement, storage of blood cells and energy. It then details the different bone shapes, structures, types of bone cells and anatomy of long bones. The document also discusses the skull bones, vertebral column, bones of the upper and lower limbs and pelvis. Finally, it examines the three types of joints - fibrous, cartilaginous and synovial - and describes the movements associated with synovial joints such as flexion, extension, and rotation.
The document discusses omega-3, omega-6, and omega-9 fatty acids, including their main components, plant and seafood sources, functions in the body, role in various health conditions, and deficiency symptoms. It provides details on the differences between plant and marine sources of omega-3s, how omega-3s function in the body including promoting healthy cell membranes and reducing inflammation, and conditions such as cardiovascular disease and depression that omega-3s may help prevent or treat.
This document discusses vitamin C, including its functions, dietary sources, recommended intake amounts, and the role of vitamin C in various health conditions. Some key points include: Vitamin C is water-soluble and acts as an antioxidant; dietary sources include citrus fruits, berries, peppers and broccoli; recommended daily amounts vary from 15-90 mg depending on age and gender; and higher vitamin C intake through food or supplements may help reduce risks of conditions like cardiovascular disease, cancer and stroke. However, very high supplemental doses could increase risks of side effects like diarrhea or kidney stones.
The document summarizes a study that assessed the nutrition knowledge of Palestinian physicians working at Shifa Hospital in Gaza City. It describes the study design, which used a questionnaire to survey 36 physicians about their demographics, training, nutrition knowledge, and diet-disease relationship awareness. The results showed that most physicians were male, between 35-45 years old, held a master's degree, and worked in the surgery department.
Hypothyroidism is caused by an underactive thyroid gland that produces insufficient thyroid hormones. The document summarizes the symptoms, complications, classifications, and treatments for hypothyroidism. It provides details on the thyroid gland, hormones, and regulating system. Treatment recommendations include dietary changes like increasing iodine, calcium and magnesium intake. Herbal supplements like bladderwrack, oats and makandi are also suggested to support thyroid function.
This document summarizes key aspects of metabolism integration. It discusses the major macronutrients and their roles in energy production and storage. The major metabolic pathways are described, including their junction points and regulatory enzymes. Specific pathways for glucose, fatty acids, and amino acids are explained. The roles of the liver in metabolic integration and regulation by hormones like insulin and glucagon are highlighted.
Integrating Ayurveda into Parkinson’s Management: A Holistic ApproachAyurveda ForAll
Explore the benefits of combining Ayurveda with conventional Parkinson's treatments. Learn how a holistic approach can manage symptoms, enhance well-being, and balance body energies. Discover the steps to safely integrate Ayurvedic practices into your Parkinson’s care plan, including expert guidance on diet, herbal remedies, and lifestyle modifications.
Basavarajeeyam is an important text for ayurvedic physician belonging to andhra pradehs. It is a popular compendium in various parts of our country as well as in andhra pradesh. The content of the text was presented in sanskrit and telugu language (Bilingual). One of the most famous book in ayurvedic pharmaceutics and therapeutics. This book contains 25 chapters called as prakaranas. Many rasaoushadis were explained, pioneer of dhatu druti, nadi pareeksha, mutra pareeksha etc. Belongs to the period of 15-16 century. New diseases like upadamsha, phiranga rogas are explained.
share - Lions, tigers, AI and health misinformation, oh my!.pptxTina Purnat
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- Video recording of this lecture in English language: https://youtu.be/kqbnxVAZs-0
- Video recording of this lecture in Arabic language: https://youtu.be/SINlygW1Mpc
- Link to download the book free: https://nephrotube.blogspot.com/p/nephrotube-nephrology-books.html
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8 Surprising Reasons To Meditate 40 Minutes A Day That Can Change Your Life.pptxHolistified Wellness
We’re talking about Vedic Meditation, a form of meditation that has been around for at least 5,000 years. Back then, the people who lived in the Indus Valley, now known as India and Pakistan, practised meditation as a fundamental part of daily life. This knowledge that has given us yoga and Ayurveda, was known as Veda, hence the name Vedic. And though there are some written records, the practice has been passed down verbally from generation to generation.
Here is the updated list of Top Best Ayurvedic medicine for Gas and Indigestion and those are Gas-O-Go Syp for Dyspepsia | Lavizyme Syrup for Acidity | Yumzyme Hepatoprotective Capsules etc
NVBDCP.pptx Nation vector borne disease control programSapna Thakur
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Does Over-Masturbation Contribute to Chronic Prostatitis.pptxwalterHu5
In some case, your chronic prostatitis may be related to over-masturbation. Generally, natural medicine Diuretic and Anti-inflammatory Pill can help mee get a cure.
2. - Inborn errors of metabolism comprise a large class of
genetic diseases involving disorders of metabolism.
- The majority are due to defects of single genes that
code for enzymes that facilitate conversion of various
substances (substrates) into others (products).
- In most of the disorders, problems arise due to
accumulation of substances which are toxic or
interfere with normal function, or to the effects of
reduced ability to synthesize essential compounds.
2
3. Inborn errors of metabolism are
now often referred to as
congenital metabolic diseases
or inherited metabolic diseases
3
4. Garrod’s hypothesis
A B C product deficiency
substrate excess
D toxic metabolite
4
9. Glycogen storage disease
• Glycogen storage disease (GSD, also glycogenosis
and dextrinosis) is the result of defects in the
processing of glycogen synthesis or breakdown within
muscles, liver, and other cell types. GSD has two
classes of cause: genetic and acquired.
• Genetic GSD is caused by any inborn error of
metabolism (genetically defective enzymes) involved in
these processes.
9
11. • Symptoms:
Hypoglycemia, Hyperlipidemia, Hepatomegaly, Lactic
acidosis, and Hyperuricemia.
• Progression: Growth failure
• Enzyme deficiency: (glucose-6-phosphatase) which is an
enzyme that hydrolyzes glucose-6-phosphate resulting in the
creation of a phosphate group and free glucose. This
deficiency impairs the ability of the liver to produce free
glucose from glycogen and from gluconeogenesis. Since
these are the two principal metabolic mechanisms by which
the liver supplies glucose to the rest of the body during
periods of fasting, it causes severe hypoglycemia.
11
12. Treatment:
• The essential treatment goal is prevention of hypoglycemia and the
secondary metabolic derangements by frequent feedings of foods
high in glucose or starch (which is readily digested to glucose). To
compensate for the inability of the liver to provide sugar, the total
amount of dietary carbohydrate should approximate the 24-hour
glucose production rate. The diet should contain approximately 65-
70% carbohydrate, 10-15% protein, and 20-25% fat. At least a
third of the carbohydrates should be supplied through the night, so
that a young child goes no more than 3–4 hours without carbohydrate
intake
• Two methods have been used to achieve this goal in young children:
(1) continuous nocturnal gastric infusion of glucose or starch; and (2)
night-time feedings of uncooked cornstarch.
12
13. • Is an autosomal recessive metabolic disorder, which damages
muscle and nerve cells throughout the body. It is caused by an
accumulation of glycogen in the lysosome due to deficiency of
the lysosomal acid alpha-glucosidase enzyme that transforms
glycogen into glucose in lysosomes.
• The build-up of glycogen causes progressive muscle weakness
(myopathy) throughout the body and affects various body
tissues, particularly in the heart, skeletal muscles, and weakness
facial and oral muscles. Pompe's disease is one of the infiltrative
causes of restrictive cardiomyopathy and hepatomegaly.
• caused by a mutation in a gene (acid alpha-glucosidase: also
known as acid maltase) on long arm of chromosome 17.
13
14. Nutrition & Weight Maintenance
• Because of weakened facial and oral muscles, patients of all ages,
from infants to adults, may experience difficulties eating. Trouble with
sucking, chewing, and/or swallowing can lead to insufficient caloric
intake, problems maintaining a healthy weight, and a general failure
to thrive. Inadequate nutrition may even lead to endogenous muscle
protein breakdown.
Several approaches can address these issues:
• Physical therapy to help strengthen muscles and allow for
independent feeding.
• Modification of food texture to facilitate swallowing and reduce the
risk of aspiration.
• Carefully balanced diets to maximize nutrients and provide protein to
muscles.
• Tube feeding, most commonly in severely ill infants.
14
15. Treatment:
• In 2006, the European Medicines Agency (EMEA) and the U.S.
Food and Drug Administration (FDA) both granted marketing
approval for the drug Myozyme (alglucosidase alfa) for
treatment of Pompe disease. Myozyme replaces the enzyme
missing in the disease, which helps break down glucose.
• Early diagnosis and early treatment leads to much better
outcomes.
• Progression: Death by age ~2 years.
15
16. • Is a metabolic disorder, caused by a deficiency of enzyme
Myophosphorylase, which is the muscle isoform of the enzyme
glycogen phosphorylase.
• This enzyme helps break down glycogen into glucose-1-
phosphate, so that it can be utilized within the muscle cell.
• Symptoms: The onset of this disease is usually noticed in
childhood, but often not diagnosed until the third or fourth
decade of life. Symptoms include exercise intolerance with
myalgia, early fatigue, painful cramps, weakness of exercising
muscles and myoglobinuria. Myoglobinuria, the condition where
myoglobin is present in urine, may result from serious damage to
the muscles, or rhabdomyolysis, where skeletal muscle cells
breakdown rapidly, sending their contents into the bloodstream.
16
17. Treatment/Therapy
• Oral vitamin B6 appears to impart greater resistance to
fatigue. No specific therapy exists, but combined aerobic
exercise programs and high-protein diets may help. Some
patients learn the limits of their exercise and work within their
restrictions, going on to live fairly normal lives.
• Supervised exercise programs have been recommended to
lessen the risks of extended inactivity.
• Sucrose treatment is now being recommended prior to exercise.
• Progression: Renal failure due to muoglobinuria.
17
18. Vit B6 rich food High proteins food
Spinach Soy protein isolate
Red bell peppers Gelatin
Garlic Egg, white
Carrots Fish meat
Peas Milk
Potatoes Chicken
Milk Nuts
Egg Peanut butter
Fish Steak
Liver Cheese
Meat (red) Hamburger
Broccoli Broccoli
18
19. • Is metabolic disorder with autosomal recessive inheritance
Phosphofructokinase deficiency.
Pathophysiology:
• In this condition, a deficiency phosphofructokinase enzyme
impairs the ability of cells such as erythrocytes and skeletal
muscles to use carbohydrates for energy.
• The mutation impairs the ability of phosphofructokinase to
phosphorylate fructose-6-phosphate prior to its cleavage into
glyceraldehyde which enters the Krebs cycle, effectively limiting
energy production.
• Unlike most other GSD, it directly affects glycolysis.
19
20. Presentation
• The disease presents with exercise-induced muscle cramps and
weakness (sometimes rhabdomyolysis), myoglobinuria, as well as with
haemolytic anaemia causing dark urine. Hyperuricemia is common.
Phosphofructokinase deficiency also presents in a rare infantile form,
results in severe myopathy and leads to death in the infancy or early
childhood.
Treatment/interventions
• There is no cure for Tarui disease, but various treatments may
alleviate symptoms and complications.
• Individuals with Tarui disease should be observant to myoglobulinuria,
presenting as a dark discoloration of the urine. Owing to the risk of
kidney damage, medical help should be sought immediately if
symptoms arise. Dialysis is needed if toxic waste products accumulate
owing to renal failure (uraemia).
20
21. Treatment/interventions
• In Tarui’s disease, jaundice is mild and generally does not require
treatment.
• High uric acid concentrations that may cause gout can be treated with
drugs which lower uric acid levels in the blood.
• The effectiveness of dietary management remains unclear. It is
possible that food with a high fat content (notably fatty fish) has a
beneficial effect, as the glycerol in neutral fat can replace glucose as
a source of energy. It may be possible to "teach" the skeletal muscle
cells to oxidise fatty acids rather than glucose to produce energy.
• Individuals with Tarui’s disease should avoid intensive muscle activity
that has many negative consequences for physical and mental health.
21
22. Type of Eponym Enzyme deficiency Progression and
GSD Complications
GSD III Cori’s or Forbes Glycogen debrancher Hypoglycemia and
disease myopathy
GSD IV Andersen disease Glycogen branching Liver cirrhosis,
Enzyme death at age ~5 years
GSD VI Hers disease Liver glycogen Hypoglycemia and
phosphorylase Hepatomegaly
GSD IX Phosphorylase kinase Delayed motor development,
Growth retardation
GSD XI Fanconi-Bickel Glucose transporter, Hypoglycemia and
syndrome GLUT2 Hepatomegaly
GSD XII Red Cell Aldolase Aldolase A Exercise intolerance, and
muscle cramps
GSD XIII B-enolase Exercise intolerance, and
muscle cramps
GSD O Glycogen synthase Hypoglycemia 22
24. • (PKU) is an autosomal recessive metabolic genetic disorder
characterized by a deficiency in the hepatic enzyme
phenylalanine hydroxylase (PAH). This enzyme is necessary to
metabolize the phenylalanine (Phe) to the tyrosine. When PAH is
deficient, phenylalanine accumulates and is converted into
phenylpyruvate, which is detected in the urine.
• It can cause problems with brain development, leading to
progressive mental retardation, brain damage, and seizures.
• Optimal treatment involves lowering blood (Phe) levels to a safe
range and monitoring diet and cognitive development.
• PKU is normally detected using the HPLC test after birth.
24
25. Signs and Symptoms:
• the disease may present clinically with seizures, albinism (excessively
fair hair and skin), and a "musty odor" to the baby's sweat and urine
(due to phenylacetate, one of the ketones produced).
• Treatment: by managing and controlling (Phe) levels through diet, or
a combination of diet and medication.
• All PKU patients must adhere to a special diet low in phenylalanine
for at least the first 16 years of their lives. This requires severely
restricting or eliminating foods high in phenylalanine, such as meat,
chicken, fish, eggs, nuts, cheese, legumes, cow milk and other dairy
products. Starchy foods such as potatoes, bread, pasta, and corn
must be monitored.
• Infants require a commercial formula of milk that free from (Phe).
25
26. • Tyrosine, which is normally derived from phenylalanine, must be
supplemented.
• The sweetener of aspartame must be avoided, as aspartame
consists of two amino acids: phenylalanine and aspartic acid.
• The oral administration of tetrahydrobiopterin (or BH4) (a
cofactor for the oxidation of phenylalanine) can reduce blood
levels of this amino acid in certain patients.
• For childhood, we can add some fruits and vegetables the low
in (Phe) which provide essential vitamins and minerals.
26
28. • Also called branched-chain ketoaciduria, is an autosomal recessive
metabolic disorder affecting branched-chain amino acids. It is one
type of organic acidemia.
• MSUD is caused by a deficiency of the branched-chain alpha-keto
acid dehydrogenase complex (BCKDH), leading to a buildup of the
branched-chain amino acids (leucine, isoleucine, and valine) and their
toxic by-products in the blood and urine.
• The disease is characterized in an infant by the presence of sweet-
smelling urine, with an odor similar to that of maple syrup. Infants
with this disease seem healthy at birth but if left untreated suffer
severe brain damage and eventually die.
• From early infancy, symptoms of the condition include poor feeding,
vomiting, dehydration, lethargy, seizures, hypoglycaemia,
ketoacidosis, pancreatitis, coma and neurological decline.
28
29. Management:
• Keeping MSUD under control requires careful monitoring of
blood chemistry and involves both a special diet and frequent
testing.
• A diet with minimal levels of the amino acids leucine, isoleucine,
and valine must be maintained in order to prevent neurological
damage. As these three amino acids are required for proper
metabolic function in all people, specialized protein
preparations containing substitutes and adjusted levels of the
amino acids have been synthesized and tested, allowing MSUD
patients to meet normal nutritional requirements without causing
harm.
29
30. Leucine (Food) Isoleucine (Food) Valine (Food)
Soybeans Eggs Closed to Isoleucine sources
Lentils Soy protein
Cowpea اللوبيا Seeweed
Beef (lean and trimmed) Milk
Peanuts Cheese
Salmon fish Sesame seeds
Shrimp Sunflower seeds
Nuts Cod liver
Eggs
30
31. • Glutaric acidemia type 1 (or "Glutaric Aciduria", "GA1", or
"GAT1") is an inherited disorder in which the body is unable to
break down completely the amino acids lysine, hydroxylysine
and tryptophan. Excessive levels of their intermediate
breakdown products (glutaric acid, glutaryl-CoA, 3-
hydroxyglutaric acid, glutaconic acid) can accumulate and
cause damage to the brain (and also other organs), but
particularly the basal ganglia, which are regions that help
regulate movement. GA1 causes secondary carnitine deficiency,
as glutaric acid, like other organic acids, is detoxified by
carnitine. Mental retardation may also occur.
31
32. • Correction of secondary Carnitine depletion by oral
supplementation.
• Precursor restriction: Dietary control may help limit progression
of the neurological damage.
• The entry of tryptophan to the brain is crucial in the proper
synthesis of the neurotransmitter serotonin in the brain …..…..
5-hydroxytryptophan.
• The precursor of serotonin that is not metabolized to glutaryl-
CoA, glutaric acid and secondary metabolites, could be used as
an adjunct to selective tryptophan restriction.
32
35. • Alkaptonuria (black urine disease) is a rare inherited genetic
disorder of phenylalanine and tyrosine metabolism. This is an
autosomal recessive condition that is due to a defect in the
enzyme homogentisate 1,2-dioxygenase, which participates in
the degradation of tyrosine.
• As a result, a toxic tyrosine byproduct called homogentisic acid
(or alkapton) accumulates in the blood and is excreted in urine
in large amounts. Excessive homogentisic acid causes damage to
cartilage (leading to osteoarthritis) and heart valves as well as
precipitating as kidney stones.
35
36. • No treatment modality has been demonstrated to reduce the
complications of alkaptonuria.
• Commonly recommended treatments include dietary restriction
of phenylalanine and tyrosine and large doses of ascorbic acid
(vitamin C).
• Dietary restriction may be effective in children, but benefits in
adults have not been demonstrated.
36
38. • Medium-chain acyl-coenzyme A dehydrogenase deficiency
(MCADD) is a fatty acid oxidation disorder associated with
inborn errors of metabolism. It is due to defects in the enzyme
complex known as medium-chain acyl dehydrogenase (MCAD)
and reduced activity of this complex. This complex oxidizes
medium chain fatty acids (Fatty acids having 6-12 carbons)
while reducing FAD to FADH2.
• It is recognized as one of the more rare causes of sudden infant
death syndrome (SIDS).
38
39. Treatment:
• There is no cure for MCADD, but once diagnosed, adverse effects can
be prevented by proper management.
• The most important part of treatment is to ensure that patients never
go without food for longer than 10–12 hours (overnight fast).
• Patients with an illness causing loss of appetite or severe vomiting
may need IV glucose to make sure that the body is not dependent on
fatty acids for energy. Patients also usually adhere to a low-fat diet.
• Patients may also take daily doses of carnitine, which helps reduce
toxic accumulation of fatty acids by forming acyl carnitines, which are
excreted in the urine.
• Severity of symptoms seems to decrease after puberty.
39
41. • Acute intermittent porphyria (AIP) is a rare autosomal
dominant metabolic disorder affecting the production of heme,
the oxygen-binding prosthetic group of hemoglobin. It is
characterized by a deficiency of the enzyme porphobilinogen
deaminase.
• Symptoms of AIP include abdominal pain, constipation, muscle
weakness, and also tend to develop various psychiatric illnesses.
• Treatment: A high-carbohydrate a glucose 10% infusion is
recommended, which may aid in recovery.
• Iron intake should be adequate to avoid iron deficiency.
41
44. • Is inherited (X-linked recessive) disorder caused by a deficiency
of the hypoxanthine-guanine phosphoribosyltransferase
enzyme (HGPRT), produced by mutations in the HPRT gene.
• The HGPRT deficiency causes a build-up of uric acid in all body
fluids. This results in both hyperuricemia and hyperuricosuria,
associated with:
1- Severe gout and kidney problems,
2- Neurological signs include poor muscle control,
3- Moderate mental retardation.
• These complications usually appear in the first year of life.
44
45. • In the second year of life, a particularly striking feature of LNS
is self-mutilating behaviors, characterized by lip and finger
biting.
• The LNS should associated with teeth extraction and restrains to
avoid self-mutilating behaviors.
Treatment:
• The elevated level of uric acid in blood and urine doesn’t relate
to high purine diet, but due to physiological error.
• Because a lack of HGPRT causes the body to poorly utilize
vitamin B12, some boys may develop megaloblastic anemia and
neurological symptoms.
45
47. • Congenital adrenal hyperplasia (CAH) refers to any of several
autosomal recessive diseases resulting from mutations of genes
for enzymes mediating the biochemical steps of production of
cortisol from cholesterol by the adrenal glands
(steroidogenesis).
• Most of these conditions involve excessive or deficient
production of sex steroids and can alter development of
primary or secondary sex characteristics in some affected
infants, children, or adults. Approximately 95% of cases of CAH
are due to 21-hydroxylase deficiency.
• Steroid 21-hydroxylase is one of a cytochrome P450 enzymes
that is involved with the biosynthesis of the steroid hormones
aldosterone and cortisol.
47
48. Treatment:
• Supplying enough glucocorticoid to reduce hyperplasia and
overproduction of androgens or mineralocorticoids.
• Providing replacement mineralocorticoid and extra salt.
• Providing replacement testosterone or estrogen at puberty.
Diet:
• Patients with congenital adrenal hyperplasia should be on an
unrestricted diet.
• Patients should have ample access to salt because salt wasting.
• Infants who have salt wasting generally benefit from supplementation
with NaCl (2-4 g/d) added to their formula.
• Caloric intake may need to be monitored and restricted if excess
weight gain occurs because glucocorticoids stimulate appetite.
Activity: restriction is not necessary if appropriate glucocorticoid.
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50. • (KSS) is a mitochondrial myopathy with a typical onset before
20 years of age.
• KSS is a more severe syndromic variant of chronic progressive
external ophthalmoplegia (CPEO), a syndrome that is
characterized by isolated involvement of the muscles controlling
eyelid movement and those controlling eye movement (extra-
ocular muscles). This results in ptosis (dropping upper eyelid)
and ophthalmoplegia respectively.
• KSS involves cardiac conduction abnormalities.
• Other areas of involvement can include cerebellar ataxia,
deafness, diabetes mellitus, growth hormone deficiency,
hypoparathyroidism, or other endocrinopathies.
50
52. • Treatment: Currently there is no curative treatment for KSS.
• One study described a patient with KSS who had reduced serum
levels of coenzyme Q10. Administration of 60–120 mg of Coenzyme
Q10 for 3 months resulted in normalization of lactate and pyruvate
levels, improvement of previously diagnosed first degree AV block,
and improvement of ocular movements**.
Foods rich in Co Q10: beef liver, sesame & cotton seed oil, sardines,
eggs, garlic and sweet potatoes.
• Screening for endocrinologic disorders should be performed,
including measuring serum glucose levels, thyroid function tests,
calcium and magnesium levels, and serum electrolyte levels.
** Ogasahara, S et al. (1985) "Improvement of abnormal pyruvate metabolism and cardiac conduction defect with
coenzyme Q(10) in Kearns-Sayre syndrome." Neurology 35: 372-377. PubMed ID : 3974895
52
54. • Zellweger syndrome, also called cerebrohepatorenal syndrome is a
rare, congenital disorder (present at birth), characterized by the
reduction or absence of peroxisomes in the cells of the liver, kidneys,
and brain.
• Peroxisomes contain oxidative enzymes, such as catalase, D-amino
acid oxidase, and uric acid oxidase.
• It is characterized by an individual's inability to beta-oxidize very-
long chain fatty acids in the peroxisomes of the cell.
The most features include
1- An enlarged liver, high levels of iron and copper in the blood stream,
and vision disturbances.
2- Symptoms at birth may include a lack of muscle tone, and glaucoma.
3- Mental retardation, and an inability to suck and/or swallow.
4- Jaundice and gastrointestinal bleeding may also occur.
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55. • Treatment:
• Treatment of Zellweger syndrome is primarily symptomatic and
supportive.
• Vitamin K may be needed to avoid abnormal bleeding.
• DHA is an essential fatty acid, which is deficient in patients with
Zellweger syndrome. Improvement has been reported in some
patients.
• Actually; there is no cure for Zellweger syndrome and patient
will die at first year of life.
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57. • Gaucher's disease is a genetic disease in which a fatty substance
accumulates in cells and certain organs.
• It is caused by a hereditary deficiency of the enzyme
glucocerebrosidase. The enzyme acts on a fatty substance
glucocerebroside (also known as glucosylceramide).
• When the enzyme is defective, glucocerebroside accumulates,
particularly in white blood cells (mono & lymphocyte).
• Glucocerebroside can collect in the spleen, liver, kidneys, lungs, brain
and bone marrow.
Sign and Symptoms:
• Painless hepatomegaly, splenomegaly, mental retardation, and rapid
and premature destruction of blood cells, leading to anemia.
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58. Treatment:
• The enzyme replacement therapy is essential for the treatment.
• Osteoporosis can be reduced by Vit D.
• Gaucher patients have increased caloric requirements because
they have higher-than-normal metabolism.
• Despite the need for more food, patients with pronounced liver
and/or spleen enlargement can frequently have a suppressed
appetite. The enlarged organs leave little room in the body
cavity for a full stomach, so patients often report a sensation of
feeling full, even after having only a few bites of food.
• Minerals or vitamins specially B12 are recommended..
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60. • Galactosemia is an inherited disorder characterized by
an inability of the body to utilize galactose.
• Galactosemia means "galactose in the blood".
• The main source of galactose in the diet is milk products.
• The deficient enzyme that is responsible of galactosemia
is called galactose-1-phosphate uridyl transferase
(GALT). The GALT enzyme enables the body to break
down galactose into glucose for energy.
• Galactosemia is treated by removing foods that contain
galactose from the diet. Untreated galactosemia will
result in a harmful build-up of galactose and galactose-1-
phosphate in the bloodstream and body tissues.
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61. • Infants with unrecognized galactosemia usually have
problems with feeding and do not grow as they should.
• If galactosemia is not treated, infants can develop
cataracts, liver disease, kidney problems, brain damage,
and in some cases, can lead to death.
Diet:
• The diet should allow most protein-containing foods other
than milk and milk products.
• Lactose is often used as a filler or inactive ingredient in
medicines, and might not be listed on the package.
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62. Some foods contain galactose and are unacceptable:
Butter Buttermilk and solids
Calcium caseinate Casein
Nonfat milk Cream
Dry milk and milk protein beans
Hydrolyzed protein made from casein Ice cream
Lactalbumin (milk albuminate) Lactose
Milk and milk solids Milk chocolate
Nonfat dry milk & solids Cheese
Organ meats (liver, heart, etc.) Sherbet
Sodium caseinate Sour cream
Whey مصل اللبنand whey solids Yogurt
• Sherbet: Traditional cold drink prepared of species of cherries,
rose, licorice or Hibiscus with diary products.
62
63. • Foods with more than 10 mg Galactose/100 gram of food:
Tomato 23
Date 11
Papaya 29
Bell Pepper 10
Watermelon 15
• Foods with 5-10 mg Galactose/100 gram of food:
• Apricot, Avocado, Cabbage, Cantaloupe, Cauliflower, Celery, Sweet corn,
Cucumber, Eggplant, Green grapes, Grapefruit, Kale, Lettuce, Oranges,
Peas, White potato, Radish Spinach, Turnip ,Apple ,Banana ,Broccoli Carrot,
Kiwi, Green onion, Yellow onion, Pears, Sweet potato, Pumpkin.
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64. • Is a fructose poisoning is a hereditary condition caused by a
deficiency of liver enzymes that metabolise fructose.
• Deficiency of Fructose 1-Phosphate Aldolase or Aldolase B
enzyme which lead to accumulate Fructose-1-phosphate in
blood.
• Aldolase-B, converts F-1-ph to Dihydroxyacetone phosphate
and glyceraldehyde. (Acts in Glycolysis and Gluconeogenesis).
• Exclusive breastfeeding baby remain without symptoms.
• Symptoms include vomiting, hypoglycemia, failure to thrive,
cachexia, hepatomegaly, jaundice, coagulopathy, coma, and
severe metabolic acidosis (due to lactic acidosis).
Treatment: fructose and sucrose free diets.
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65. Avoid foods that contain: Fruits And Fruit Juices:
• Fructose Dates - 32 grams
• High-fructose corn syrup Figs - 29.6 grams
Dried peaches - 13.5 grams
• Table sugar (sucrose) Dried apricots - 12.5 grams
• Confectioner's sugar or powdered Grapes - 8 grams
sugar Pears - 6.2 grams
Apples - 6 grams
• Fruit and fruit juices
Apple juice - 5.6 grams
• Honey Mango - 5.5 grams
• Regular sodas Cherries - 5.3 grams
Bananas - 4.85 grams
• Flavored water
Kiwi Fruit - 4.3 grams
• Sorbitol Watermelon - 3.35 grams
• Sports drinks Orange Juice - 2.7
Strawberries - 2.4 grams
• Sweetened milk or sweetened milk
Oranges - 2.2 grams
beverages Pineapple - 2.0 grams
• Molasses
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66. • Is a disorder characterized by the presence of a higher level of
methemoglobin in the blood.
• Methemoglobin is an oxidized form of hemoglobin, {the iron within
hemoglobin is oxidized from the ferrous (Fe2+) state to the ferric
(Fe3+) state}, that has no affinity for oxygen, resulting in no oxygen
delivery to the tissue, so hypoxia can occur.
• Clinically, this condition causes cyanosis.
• The major cause of inborn is glucose-6-phosphate dehydrogenase
[G6PD] deficiency and cytochrome b5 oxidase deficiency) or severe
acidosis, which impairs the function of cytochrome b5 oxidase.
• This is particularly evident in young infants with diarrhea, in whom
excessive stool bicarbonate loss leads to metabolic acidosis.
66
67. • Ascorbic acid is an antioxidant that may also be administered in
patients with methemoglobin levels of more than 30%.
• Oral ascorbic acid (200-500 mg) has been found to be
partially effective, some authors recommend using higher doses
of up to 1000 mg/d.
• Some vegetables (beets ,البنجرspinach, and carrots) are high in
nitrite content, may need to be avoided in susceptible patients
as well as contaminated water of nitrates and nitrites.
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68. Food Sources of Vit C
(adapted from world healthiest food; WHFood’s)
Food Serving size Calories Vit-C (mg)
Bell peppers, red, raw, slices 1 cup 24.8 174.8
Broccoli, steamed 1 cup 43.7 123.4
Strawberries 1 cup 43.2 81.70
Lemon juice, fresh ¼ cup 15.3 28.06
Grapefruit ½ each 36.9 46.86
Kiwifruit 1 each 46.4 57.00
Cantaloupe 1 cup 56.0 67.52
Oranges 1 each 61.6 69.70
Tomato, ripe 1 cup 37.8 34.38
Banana 1 each 108.1 10.75
Apples 1 each 81.4 7.87
Grapes 1 cup 61.6 3.68
Avocado, slices 1 cup 235 11.53
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69. • Celiac Disease (CD) is a lifelong inherited autoimmune
condition affecting children and adults.
• When people with CD eat foods that contain gluten, it creates
an immune-mediated toxic reaction that causes damage to the
small intestine and does not allow food to be properly
absorbed. (For children, growth failure is the biggest challenge)
• Even small amounts of gluten in foods can affect those with CD
and cause health problems.
• Damage occur to small bowel even when no symptoms present.
• Gluten can find in wheat, barley, and rye.
• Sensitivity of gluten is to Gliadin portion of protein.
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