Maple Syrup Urine Disease
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Jacob, a newborn baby, was exhibiting symptoms of seizures, irritability, poor feeding, and a sweet smell to his urine. Tests showed no infection but his symptoms mirrored those of a brother who died shortly after birth. Additional testing, including urine analysis and tandem mass spectrometry, would be done to confirm the initial diagnosis of Maple Syrup Urine Disease (MSUD), a rare inherited disorder caused by the body's inability to break down certain amino acids. MSUD causes these amino acids and their byproducts to accumulate and can be treated through a protein-restricted diet.
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Maple Syrup Urine Disease
Maple syrup urine disease (MSUD) is a rare genetic metabolic disorder caused by a deficiency of the enzyme branched chain alpha ketoacid dehydrogenase, which prevents the body from properly breaking down three amino acids found in protein. This causes a buildup of these amino acids and their byproducts in the body. Symptoms can range from a characteristic maple syrup smell in urine to poor feeding, vomiting, and weight loss. Treatment involves a restricted diet low in these amino acids and use of a special metabolic formula. Management aims to keep amino acid levels from becoming too high or too low to prevent health complications.
Maple syrup urine disease
Maple Syrup Urine Disease is a metabolism disorder that prevents the breakdown of certain proteins, causing a buildup of amino acids in the bloodstream. People with this disease have urine that smells like maple syrup. If left untreated, it can cause brain damage, coma, and even death during times of physical stress. Treatment involves a protein-free diet with supplemental fluids, sugars, and fats through an IV if caught early, but outbreaks can still occur during stressful situations.
Msud
A newborn baby named Jason was exhibiting symptoms of seizures, irritability, poor feeding, and a sweet smell to his urine. Additional testing revealed he had Maple Syrup Urine Disease (MSUD), an inherited disorder caused by a deficiency of the enzyme branched-chain alpha-keto acid dehydrogenase complex. This prevents the breakdown of certain amino acids, causing them to accumulate to abnormal levels in the body. Treatment involves a strict protein-free diet to avoid metabolic crisis and potential neurological damage. The family was counseled about MSUD's autosomal recessive inheritance and the risks for future offspring.
Maple syrup urine disease by Jimcale Xamari
Jimcale Xamari is qualified nurse and a medical Student at Edna Adan Medical College in Hargeisa Somaliland.
MSUD disease short presentation
MSUD, or Maple Syrup Urine Disease, is a recessive metabolic disorder where the body cannot properly process certain protein building blocks called amino acids. It gets its name from a 1954 case where the urine of infants who died of a neurodegenerative disorder smelled like maple syrup. Without treatment, MSUD can cause seizures, coma, poor weight gain, muscle changes and even death, but following a special low-amino acid diet and medication allows most people with MSUD to live normal lives into adulthood.
Maple syrup urine disease (msud)
Maple syrup urine disease (msud)Marudhar Kesari Jain College for Women Vaniyambadi - 635 751, Tamil Nadu, INDIA.
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.Inborn errors of metabolism
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.
Maple syrup urine disease MSUD and Homocystinuria
MSUD is metabolic genetic error . It happens due to lack of an enzyem that degrades specific amino acids
Homocystinuria is also a metbolic genetic error due to an enzyme defficiency it leads to an accumulation of homocystein and related chemical in the blood
Recommended
Maple Syrup Urine Disease
Maple syrup urine disease (MSUD) is a rare genetic metabolic disorder caused by a deficiency of the enzyme branched chain alpha ketoacid dehydrogenase, which prevents the body from properly breaking down three amino acids found in protein. This causes a buildup of these amino acids and their byproducts in the body. Symptoms can range from a characteristic maple syrup smell in urine to poor feeding, vomiting, and weight loss. Treatment involves a restricted diet low in these amino acids and use of a special metabolic formula. Management aims to keep amino acid levels from becoming too high or too low to prevent health complications.
Maple syrup urine disease
Maple Syrup Urine Disease is a metabolism disorder that prevents the breakdown of certain proteins, causing a buildup of amino acids in the bloodstream. People with this disease have urine that smells like maple syrup. If left untreated, it can cause brain damage, coma, and even death during times of physical stress. Treatment involves a protein-free diet with supplemental fluids, sugars, and fats through an IV if caught early, but outbreaks can still occur during stressful situations.
Msud
A newborn baby named Jason was exhibiting symptoms of seizures, irritability, poor feeding, and a sweet smell to his urine. Additional testing revealed he had Maple Syrup Urine Disease (MSUD), an inherited disorder caused by a deficiency of the enzyme branched-chain alpha-keto acid dehydrogenase complex. This prevents the breakdown of certain amino acids, causing them to accumulate to abnormal levels in the body. Treatment involves a strict protein-free diet to avoid metabolic crisis and potential neurological damage. The family was counseled about MSUD's autosomal recessive inheritance and the risks for future offspring.
Maple syrup urine disease by Jimcale Xamari
Jimcale Xamari is qualified nurse and a medical Student at Edna Adan Medical College in Hargeisa Somaliland.
MSUD disease short presentation
MSUD, or Maple Syrup Urine Disease, is a recessive metabolic disorder where the body cannot properly process certain protein building blocks called amino acids. It gets its name from a 1954 case where the urine of infants who died of a neurodegenerative disorder smelled like maple syrup. Without treatment, MSUD can cause seizures, coma, poor weight gain, muscle changes and even death, but following a special low-amino acid diet and medication allows most people with MSUD to live normal lives into adulthood.
Maple syrup urine disease (msud)
Maple syrup urine disease (msud)Marudhar Kesari Jain College for Women Vaniyambadi - 635 751, Tamil Nadu, INDIA.
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.Inborn errors of metabolism
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.
Maple syrup urine disease MSUD and Homocystinuria
MSUD is metabolic genetic error . It happens due to lack of an enzyem that degrades specific amino acids
Homocystinuria is also a metbolic genetic error due to an enzyme defficiency it leads to an accumulation of homocystein and related chemical in the blood
Homocystinuria
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.
What is galactosemia
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.
Lipid storage diseases
This document summarizes several lipid storage diseases: Tay Sachs disease results from hexosaminidase A deficiency leading to ganglioside accumulation and is classified based on neurological symptom onset. Gaucher disease stems from glucocerebrosidase deficiency causing glucosylceramide storage in reticuloendothelial cells. Niemann Pick disease types A and B involve sphingomyelin accumulation in the liver, spleen, and bone marrow due to different enzymes. Several other diseases are mentioned that involve deficiencies in enzymes responsible for degrading specific lipids.
Inborn errors of metabolism
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.
MSUD
Maple syrup urine disease (MSUD) is caused by a defect in the branched-chain alpha-ketoacid dehydrogenase complex, leading to a buildup of the branched-chain amino acids leucine, isoleucine, and valine. Left untreated, this can cause neurological issues such as developmental delays. Jakob was diagnosed with MSUD as an infant after presenting with irritability and poor feeding. His family found dietary management stressful and he underwent a successful liver transplant at age 4 to provide an alternative source of the defective enzyme, allowing him to discontinue treatment.
10. pangan maple syrup disease
MSUD, or maple syrup urine disease, is a rare autosomal recessive genetic disorder that prevents the breakdown of the branched-chain amino acids leucine, isoleucine, and valine. It can be life-threatening if not treated early through a very restricted diet that avoids these amino acids and intravenous therapy if amino acid levels rise too high. The disease causes a sweet-smelling urine due to high amino acid levels and, if untreated, can cause rapid brain damage in infants. Diagnosis is through newborn screening and treatment must begin immediately to prevent health issues.
Niemann Pick Disease
This document presents two case reports of patients diagnosed with Niemann-Pick disease. The first case report describes a 19-month old child from Rajasthan who developed distension of the abdomen and loss of motor skills. Examination revealed enlarged liver and spleen, reduced hemoglobin, diminished reflexes and hypotonia. Further testing confirmed Niemann-Pick type A disease. The second case report describes an Afghan girl who was growing normally until age 1 but then developed hepatomegaly and developmental delays. Testing revealed she had Niemann-Pick disease type C. The document then provides background information on Niemann-Pick disease, describing it as a rare inherited lysosomal storage disorder caused by defects in sphingomy
Inborn error of metabolism ( Prenatal & Newborn Screening )
This document discusses inborn errors of metabolism (IEM), including definitions, classifications, symptoms, pathophysiology, treatment approaches, and the importance of prenatal and newborn screening. Some key points include:
- IEM are rare genetic disorders caused by defects in metabolic pathways. They are classified into amino acid, carbohydrate, lipid, protein, and pigment metabolism disorders.
- Early detection of IEM is important to prevent permanent mental retardation and other serious consequences through timely intervention. Newborn screening aims to recognize disorders in the first week of life.
- Tandem mass spectrometry allows screening for a wide range of disorders from a single blood sample. Prenatal screening uses maternal serum markers and
Tyrosinemia2
Tyrosinemia is a rare genetic disorder that prevents the body from breaking down the amino acid tyrosine. There are two main types, type 1 and type 2. Type 1 is caused by a defect in the FAH enzyme and can cause liver and kidney damage if left untreated. Treatment involves medication to prevent damage and a low-protein diet that restricts tyrosine and phenylalanine intake. Type 2 is caused by a defect in the TAT enzyme and symptoms include eye and skin lesions as well as developmental delays. Both types require careful dietary management and medical treatment to control symptoms and prevent complications.
Approach to Inborn Errors of Metabolism .. Dr.Padmesh
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.
Phenylketonuria (PKU)
Phenylketonuria (PKU) : is a genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenylalanine.
Phenylketonuria
Phenylketonuria (PKU) is a rare genetic disorder caused by a mutation in the PAH gene that results in a deficiency of the enzyme phenylalanine hydroxylase. This enzyme is needed to break down the amino acid phenylalanine, which accumulates and causes neurological damage if left untreated. PKU is typically diagnosed via newborn screening and can be successfully managed through a lifelong low-phenylalanine diet and supplements to prevent intellectual disability and other serious issues. Untreated PKU leads to neurological problems, but early diagnosis and strict dietary control allows patients to live healthy lives.
AMINO ACID METABOLISM DISORDERS
AMINO ACID METABOLISM DISORDERS Twenty amino acids, including nine that cannot be synthesized in humans and must be obtained through food, are involved in metabolism. Amino acids are the building blocks of proteins; some also function as or are synthesized into important molecules in the body such as neurotransmitters, hormones, pigments and oxygen-carrying molecules.
Disorders of lipid metabolism case studies-1
This document discusses disorders of lipid metabolism, including Gaucher disease and Tay-Sachs disease. It begins with an overview of lipids and their classifications. It then presents two case studies, analyzing them to diagnose Gaucher disease in the first case and Tay-Sachs disease in the second. For each disease, it covers the defective enzyme, pathophysiology, clinical manifestations, diagnosis, management and prognosis. Both are inherited lysosomal storage disorders resulting from impaired breakdown of lipids (glucosylceramide in Gaucher disease and GM2 ganglioside in Tay-Sachs disease) that accumulate in tissues. The document concludes with an overview of sphingolipidoses as a group of inherited
Inborn errors of lipid metabolism
Definition:
Many childhood conditions are caused by gene mutations that encode specific proteins. These mutations can result in the alteration of primary protein structure or the amount of protein synthesized.
The functional ability of protein, whether it is an enzyme, receptors, transport vehicle, membrane, or structural element, may be relatively or seriously compromised.
These hereditary biochemical disorders are collectively termed as ‘’Inborn errors of metabolism’’
TYROSINEMIA.pptx
This document discusses different types of tyrosinemia, which are errors in the metabolism of the amino acid tyrosine. It describes four main types: Type 1 is the most common and severe, caused by a deficiency of the enzyme fumaryl acetoacetate hydrolase and can lead to liver failure in infants if untreated. Type 2 is less severe and involves a deficiency of hepatic transaminase. Neonatal tyrosinemia occurs in premature infants due to absence of an enzyme. Hereditary tyrosinemia is the rarest and involves deficiency of another enzyme, with symptoms including liver failure and possible complications like hypoglycemia and rickets.
Disorders amino acids
This document discusses several inherited metabolic disorders involving amino acid metabolism. Phenylketonuria is described as the most common disorder, caused by a deficiency of the enzyme phenylalanine hydroxylase, leading to toxic accumulation of phenylalanine. Maple syrup urine disease results from a defect in the enzyme branched-chain keto acid dehydrogenase, causing a buildup of leucine, isoleucine, and valine breakdown products. Homocystinuria is caused by a cystathionine beta-synthase deficiency, preventing the breakdown of homocysteine. These disorders are typically detected via newborn screening and require dietary modifications and supplements to prevent associated complications.
Alkaptonuria
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.
Overview of Inborn errors of metabolism
Inborn errors of metabolism - metabolic aspects and investigations for medical students and practitioners
Inborn errors of metabolism
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.
Msud presentation
Urvashi Mudgil presented a seminar on Maple Syrup Urine Disease (MSUD) which is caused by a deficiency of the branched chain alpha keto acid dehydrogenase complex. MSUD is an autosomal recessive disorder where affected infants' urine has a distinctive sweet odor. The seminar discussed the genetic inheritance and history of MSUD, the function of the deficient enzyme complex, types of MSUD, diagnosis through newborn screening tests, and treatment including dietary management and management during metabolic crises.
12- Metabolic Disorders.ppt
1. Inborn errors of metabolism are hereditary biochemical diseases caused by single gene defects that result in errors in the metabolism of proteins, carbohydrates, or fats.
2. Symptoms vary depending on the specific disorder but can include developmental delay, organomegaly, neurological abnormalities, and in some cases distinctive odors.
3. Treatment depends on the underlying cause but may include dietary modifications, supplements to replace missing enzymes or cofactors, or gene therapy in some cases. Early diagnosis through newborn screening can help prevent complications.
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Homocystinuria
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.
What is galactosemia
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.
Lipid storage diseases
This document summarizes several lipid storage diseases: Tay Sachs disease results from hexosaminidase A deficiency leading to ganglioside accumulation and is classified based on neurological symptom onset. Gaucher disease stems from glucocerebrosidase deficiency causing glucosylceramide storage in reticuloendothelial cells. Niemann Pick disease types A and B involve sphingomyelin accumulation in the liver, spleen, and bone marrow due to different enzymes. Several other diseases are mentioned that involve deficiencies in enzymes responsible for degrading specific lipids.
Inborn errors of metabolism
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.
MSUD
Maple syrup urine disease (MSUD) is caused by a defect in the branched-chain alpha-ketoacid dehydrogenase complex, leading to a buildup of the branched-chain amino acids leucine, isoleucine, and valine. Left untreated, this can cause neurological issues such as developmental delays. Jakob was diagnosed with MSUD as an infant after presenting with irritability and poor feeding. His family found dietary management stressful and he underwent a successful liver transplant at age 4 to provide an alternative source of the defective enzyme, allowing him to discontinue treatment.
10. pangan maple syrup disease
MSUD, or maple syrup urine disease, is a rare autosomal recessive genetic disorder that prevents the breakdown of the branched-chain amino acids leucine, isoleucine, and valine. It can be life-threatening if not treated early through a very restricted diet that avoids these amino acids and intravenous therapy if amino acid levels rise too high. The disease causes a sweet-smelling urine due to high amino acid levels and, if untreated, can cause rapid brain damage in infants. Diagnosis is through newborn screening and treatment must begin immediately to prevent health issues.
Niemann Pick Disease
This document presents two case reports of patients diagnosed with Niemann-Pick disease. The first case report describes a 19-month old child from Rajasthan who developed distension of the abdomen and loss of motor skills. Examination revealed enlarged liver and spleen, reduced hemoglobin, diminished reflexes and hypotonia. Further testing confirmed Niemann-Pick type A disease. The second case report describes an Afghan girl who was growing normally until age 1 but then developed hepatomegaly and developmental delays. Testing revealed she had Niemann-Pick disease type C. The document then provides background information on Niemann-Pick disease, describing it as a rare inherited lysosomal storage disorder caused by defects in sphingomy
Inborn error of metabolism ( Prenatal & Newborn Screening )
This document discusses inborn errors of metabolism (IEM), including definitions, classifications, symptoms, pathophysiology, treatment approaches, and the importance of prenatal and newborn screening. Some key points include:
- IEM are rare genetic disorders caused by defects in metabolic pathways. They are classified into amino acid, carbohydrate, lipid, protein, and pigment metabolism disorders.
- Early detection of IEM is important to prevent permanent mental retardation and other serious consequences through timely intervention. Newborn screening aims to recognize disorders in the first week of life.
- Tandem mass spectrometry allows screening for a wide range of disorders from a single blood sample. Prenatal screening uses maternal serum markers and
Tyrosinemia2
Tyrosinemia is a rare genetic disorder that prevents the body from breaking down the amino acid tyrosine. There are two main types, type 1 and type 2. Type 1 is caused by a defect in the FAH enzyme and can cause liver and kidney damage if left untreated. Treatment involves medication to prevent damage and a low-protein diet that restricts tyrosine and phenylalanine intake. Type 2 is caused by a defect in the TAT enzyme and symptoms include eye and skin lesions as well as developmental delays. Both types require careful dietary management and medical treatment to control symptoms and prevent complications.
Approach to Inborn Errors of Metabolism .. Dr.Padmesh
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.
Phenylketonuria (PKU)
Phenylketonuria (PKU) : is a genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenylalanine.
Phenylketonuria
Phenylketonuria (PKU) is a rare genetic disorder caused by a mutation in the PAH gene that results in a deficiency of the enzyme phenylalanine hydroxylase. This enzyme is needed to break down the amino acid phenylalanine, which accumulates and causes neurological damage if left untreated. PKU is typically diagnosed via newborn screening and can be successfully managed through a lifelong low-phenylalanine diet and supplements to prevent intellectual disability and other serious issues. Untreated PKU leads to neurological problems, but early diagnosis and strict dietary control allows patients to live healthy lives.
AMINO ACID METABOLISM DISORDERS
AMINO ACID METABOLISM DISORDERS Twenty amino acids, including nine that cannot be synthesized in humans and must be obtained through food, are involved in metabolism. Amino acids are the building blocks of proteins; some also function as or are synthesized into important molecules in the body such as neurotransmitters, hormones, pigments and oxygen-carrying molecules.
Disorders of lipid metabolism case studies-1
This document discusses disorders of lipid metabolism, including Gaucher disease and Tay-Sachs disease. It begins with an overview of lipids and their classifications. It then presents two case studies, analyzing them to diagnose Gaucher disease in the first case and Tay-Sachs disease in the second. For each disease, it covers the defective enzyme, pathophysiology, clinical manifestations, diagnosis, management and prognosis. Both are inherited lysosomal storage disorders resulting from impaired breakdown of lipids (glucosylceramide in Gaucher disease and GM2 ganglioside in Tay-Sachs disease) that accumulate in tissues. The document concludes with an overview of sphingolipidoses as a group of inherited
Inborn errors of lipid metabolism
Definition:
Many childhood conditions are caused by gene mutations that encode specific proteins. These mutations can result in the alteration of primary protein structure or the amount of protein synthesized.
The functional ability of protein, whether it is an enzyme, receptors, transport vehicle, membrane, or structural element, may be relatively or seriously compromised.
These hereditary biochemical disorders are collectively termed as ‘’Inborn errors of metabolism’’
TYROSINEMIA.pptx
This document discusses different types of tyrosinemia, which are errors in the metabolism of the amino acid tyrosine. It describes four main types: Type 1 is the most common and severe, caused by a deficiency of the enzyme fumaryl acetoacetate hydrolase and can lead to liver failure in infants if untreated. Type 2 is less severe and involves a deficiency of hepatic transaminase. Neonatal tyrosinemia occurs in premature infants due to absence of an enzyme. Hereditary tyrosinemia is the rarest and involves deficiency of another enzyme, with symptoms including liver failure and possible complications like hypoglycemia and rickets.
Disorders amino acids
This document discusses several inherited metabolic disorders involving amino acid metabolism. Phenylketonuria is described as the most common disorder, caused by a deficiency of the enzyme phenylalanine hydroxylase, leading to toxic accumulation of phenylalanine. Maple syrup urine disease results from a defect in the enzyme branched-chain keto acid dehydrogenase, causing a buildup of leucine, isoleucine, and valine breakdown products. Homocystinuria is caused by a cystathionine beta-synthase deficiency, preventing the breakdown of homocysteine. These disorders are typically detected via newborn screening and require dietary modifications and supplements to prevent associated complications.
Alkaptonuria
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.
Overview of Inborn errors of metabolism
Inborn errors of metabolism - metabolic aspects and investigations for medical students and practitioners
Inborn errors of metabolism
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.
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Approach to Inborn Errors of Metabolism .. Dr.Padmesh
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Similar to Maple Syrup Urine Disease
Msud presentation
Urvashi Mudgil presented a seminar on Maple Syrup Urine Disease (MSUD) which is caused by a deficiency of the branched chain alpha keto acid dehydrogenase complex. MSUD is an autosomal recessive disorder where affected infants' urine has a distinctive sweet odor. The seminar discussed the genetic inheritance and history of MSUD, the function of the deficient enzyme complex, types of MSUD, diagnosis through newborn screening tests, and treatment including dietary management and management during metabolic crises.
12- Metabolic Disorders.ppt
1. Inborn errors of metabolism are hereditary biochemical diseases caused by single gene defects that result in errors in the metabolism of proteins, carbohydrates, or fats.
2. Symptoms vary depending on the specific disorder but can include developmental delay, organomegaly, neurological abnormalities, and in some cases distinctive odors.
3. Treatment depends on the underlying cause but may include dietary modifications, supplements to replace missing enzymes or cofactors, or gene therapy in some cases. Early diagnosis through newborn screening can help prevent complications.
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Inborn errors of metabolism occur due to mutations in genes encoding metabolic enzymes. This document summarizes 5 specific inborn errors: Phenylketonuria (PKU) is caused by a defect preventing phenylalanine conversion to tyrosine, resulting in neurological issues if not treated with a low-phenylalanine diet. Cystinuria is an inherited defect causing cystine kidney stones, treated with diet and medications. Alkaptonuria is a rare defect causing "black urine" from homogentisate accumulation, managed with diet and vitamin C. Albinism is a pigmentation defect from tyrosinase abnormalities, with vision and sun sensitivity issues. Maple syrup urine disease results from branched-chain
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Medical technologists perform complex tests on blood and body fluids to diagnose metabolic disorders affecting protein metabolism. These include phenylketonuria (PKU), maple syrup urine disease, homocystinuria, and tyrosinemia. For PKU, medical technologists screen newborn babies to detect high phenylalanine levels, which is treated through a low-protein diet. They also test for harmful amounts of acids and toxins in urine and blood to diagnose maple syrup urine disease and check amino acid levels and urine ketones to diagnose homocystinuria and tyrosinemia.
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Maple Syrup Urine Disease
- 1. Case Study By: Shelby Thorvilson
- 2. The Patient & Their Symptoms Jacob, a new born baby, was healthy as can be a few days after his birth. However, after that he started showing characteristics of seizures, irritability, failure to thrive, poor suckling response, and little interest in feeding. The doctors performed an examination that showed no sign of infection and his X-rays came back normal. His parents notice a sweet smell to Jacob’s urine, and become concerned because his symptoms are eerily similar to those of an older brother that died shortly after birth. The doctors decide that additional testing should be done.
- 3. What is your initial diagnosis for this patient? What additional tests would you run to confirm your hypothesis?
- 4. Additional Testing • Urine Analysis • Blood Analysis • White Blood Cell Analysis • Tandem Mass Spectrometry • Molecular Testing (prenatal) • Amino Acid Concentrations in Amniotic Fluid (prenatal)
- 5. Diagnosis • Maple Syrup Urine Disease • MSUD is an inherited disorder characterized by the deficiency of branched-chain alpha-keto acid dehydrogenase complex, an enzyme required to breakdown specific amino acids in the body • Since these amino acids are not metabolized, they along with various byproducts, abnormally accumulate in the cells and fluids of the body
- 6. Maple Syrup Urine Disease • MSUD is caused by a deficiency of the BCKD complex. This catalyzes the decarboxylation of the alpha-keto acids of leucine, isoleucine, and valine to their respective branched-chain acyl-CoAs • Decarbozylation of the alpha-keto acids is the second step in the degradation pathway of • The BCKD complex has three different catalytic components (E1, E2, E3) • Mutations in E1, E2, and E3 cause MSUD
- 7. Treatment Options • Protein-free diet • Intravenous administration of amino acids that don’t contain branched-chain amino acids, combined with glucose for extra calories • Infants have a diet of formula with low levels of the amino acids leucine, isoleucine, and valine.
- 8. References Maple Syrup Urine Disease - NORD (National Organization for Rare Disorders). (n.d.). Retrieved December 16, 2016, from https://rarediseases.org/rare- diseases/maple-syrup-urine-disease/ Maple syrup urine disease: MedlinePlus MedicalEncyclopedia. (n.d.). Retrieved December 16, 2016, from https://medlineplus.gov/ency/article/000373.htm Maple Syrup Urine Disease. (n.d.). Retrieved December 16, 2016, from http://emedicine.medscape.com/article/946234- overview