Refsum disease
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refsum disease its a genetical disorder which is autosomal recessive phytanoyl-CoA-hydroxylase is the enzyme location of this enzyme is chromosome 10p13
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Refsum Disease
Refsum disease is a rare genetic disorder caused by the buildup of phytanic acid, a fatty acid found in beef and dairy products. Key symptoms include impaired eyesight due to retinitis pigmentosa, deafness, loss of smell, coordination problems, dry skin, and heartbeat abnormalities. A blood test can detect high levels of phytanic acid to diagnose Refsum disease. Following a low-phytanic acid diet can improve symptoms, although vision and hearing changes may be permanent. The disease is treatable but not curable. Catching it early and adhering to medical advice can improve quality of life.
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.Phytanic acid pathway and Refsum disease
- Phytanic acid is a branched-chain fatty acid found in dairy and ruminant products that is normally broken down via α-oxidation and β-oxidation pathways.
- Refsum disease is caused by an inability to break down phytanic acid due to a deficiency in the enzyme phytanoyl-CoA hydroxylase, leading to its accumulation and neurological damage.
- Symptoms include night blindness, loss of smell, deafness, skin problems, and loss of balance. Treatment focuses on severely restricting dietary sources of phytanic acid and plasma exchange may be used in severe cases.
Zellweger syndrome
Zellweger syndrome is a rare and severe genetic disorder that damages the white matter of the brain and affects how the body metabolizes substances. It is caused by defects in the PEX genes required for normal peroxisome formation and function. Diagnosis involves tests to check for high organic compound levels and liver biopsy to examine peroxisomes. Physical symptoms include distinctive facial features, eye abnormalities, loose skin, weakness and seizures. There is no cure and most infants do not survive past 6 months due to organ failure or other issues. Treatments are limited to symptom management.
Sphingolipidoses
This document discusses sphingolipidoses, a class of rare genetic disorders caused by the accumulation of metabolites from complex lipids within neurons. Sphingolipidoses are characterized by progressive nervous system degeneration leading to symptoms like blindness, dementia, and paralysis. A cherry-red spot in the macula is a common sign seen during ophthalmologic examination, which can provide an important clue to diagnosis. Gangliosidoses are a type of sphingolipidosis caused by deficiencies in lysosomal enzymes involved in ganglioside metabolism, resulting in the storage of certain gangliosides in neurons and neurological deterioration. These disorders are ultimately fatal as there are currently no effective treatments available.
Zellweger's syndrome explained
Zellweger Syndrome is one class of Cerebrohepatorenal syndromes. It is a rare hereditary disorder and caused by a gene mutation that affects the way peroxisomes function.
Phenylketonuria (PKU)
Phenylketonuria (PKU) : is a genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenylalanine.
Homocystinuria
Homocystinuria is a disorder of methionine metabolism caused by an inability to metabolize homocysteine. There are three main types: classic homocystinuria caused by cystathionine β-synthase deficiency; defects in methylcobalamin formation; and methylenetetrahydrofolate reductase deficiency. Symptoms vary but can include developmental delay, dislocated lenses, skeletal abnormalities, thromboembolism, and intellectual disability. Treatment depends on the type but may include vitamin B6, betaine, folic acid, vitamin B12, methionine supplementation, and dietary restrictions.
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Refsum Disease
Refsum disease is a rare genetic disorder caused by the buildup of phytanic acid, a fatty acid found in beef and dairy products. Key symptoms include impaired eyesight due to retinitis pigmentosa, deafness, loss of smell, coordination problems, dry skin, and heartbeat abnormalities. A blood test can detect high levels of phytanic acid to diagnose Refsum disease. Following a low-phytanic acid diet can improve symptoms, although vision and hearing changes may be permanent. The disease is treatable but not curable. Catching it early and adhering to medical advice can improve quality of life.
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.Phytanic acid pathway and Refsum disease
- Phytanic acid is a branched-chain fatty acid found in dairy and ruminant products that is normally broken down via α-oxidation and β-oxidation pathways.
- Refsum disease is caused by an inability to break down phytanic acid due to a deficiency in the enzyme phytanoyl-CoA hydroxylase, leading to its accumulation and neurological damage.
- Symptoms include night blindness, loss of smell, deafness, skin problems, and loss of balance. Treatment focuses on severely restricting dietary sources of phytanic acid and plasma exchange may be used in severe cases.
Zellweger syndrome
Zellweger syndrome is a rare and severe genetic disorder that damages the white matter of the brain and affects how the body metabolizes substances. It is caused by defects in the PEX genes required for normal peroxisome formation and function. Diagnosis involves tests to check for high organic compound levels and liver biopsy to examine peroxisomes. Physical symptoms include distinctive facial features, eye abnormalities, loose skin, weakness and seizures. There is no cure and most infants do not survive past 6 months due to organ failure or other issues. Treatments are limited to symptom management.
Sphingolipidoses
This document discusses sphingolipidoses, a class of rare genetic disorders caused by the accumulation of metabolites from complex lipids within neurons. Sphingolipidoses are characterized by progressive nervous system degeneration leading to symptoms like blindness, dementia, and paralysis. A cherry-red spot in the macula is a common sign seen during ophthalmologic examination, which can provide an important clue to diagnosis. Gangliosidoses are a type of sphingolipidosis caused by deficiencies in lysosomal enzymes involved in ganglioside metabolism, resulting in the storage of certain gangliosides in neurons and neurological deterioration. These disorders are ultimately fatal as there are currently no effective treatments available.
Zellweger's syndrome explained
Zellweger Syndrome is one class of Cerebrohepatorenal syndromes. It is a rare hereditary disorder and caused by a gene mutation that affects the way peroxisomes function.
Phenylketonuria (PKU)
Phenylketonuria (PKU) : is a genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenylalanine.
Homocystinuria
Homocystinuria is a disorder of methionine metabolism caused by an inability to metabolize homocysteine. There are three main types: classic homocystinuria caused by cystathionine β-synthase deficiency; defects in methylcobalamin formation; and methylenetetrahydrofolate reductase deficiency. Symptoms vary but can include developmental delay, dislocated lenses, skeletal abnormalities, thromboembolism, and intellectual disability. Treatment depends on the type but may include vitamin B6, betaine, folic acid, vitamin B12, methionine supplementation, and dietary restrictions.
ALCOHOL METABOLISM
Alcohol is absorbed from the stomach and intestine and metabolized primarily in the liver. The liver enzyme alcohol dehydrogenase oxidizes ethanol to acetaldehyde, which is then further oxidized to acetate. A small amount of alcohol is eliminated through the lungs, urine, and sweat, while the majority is metabolized in the liver. The metabolism of alcohol increases the NADH/NAD+ ratio in the liver, leading to metabolic alterations like lactic acidosis, hypoglycemia, and fatty liver. Chronic alcohol use can also damage the liver and brain, potentially causing cirrhosis and neurological issues.
Niemann Pick Disease (Nafisa Nawal Islam)
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GLCOGEN STORAGE DISORDERS
GSD are inherited disorders of glycogen metabolism caused by defects in glycogen degradation, glycolysis or glycogen synthesis. They can affect the liver, muscle or be generalized. GSD I is the most severe liver GSD affecting glycogen breakdown and gluconeogenesis. It presents in infancy with hypoglycemia, hepatomegaly and growth retardation. Treatment involves preventing hypoglycemia through frequent feeds and nocturnal gastric feeding. GSD III is caused by debranching enzyme deficiency and can present with liver or muscle involvement. Symptoms are similar to GSD I in childhood but improve with age, while myopathy often appears later in life.
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LIPID STORAGE DISEASES MUHAMMAD MUSTANSAR FJMC LAHORE
This document discusses several lipid storage diseases including Tay-Sachs disease, Gaucher's disease, Niemann-Pick disease, and Fabry's disease. [1] These diseases arise from deficiencies in specific lysosomal enzymes, leading to accumulation of enzyme substrates in tissues. [2] They are inherited autosomally recessive except for Fabry's disease which is X-linked. [3] The document provides details on the genetic causes and clinical manifestations of each disease.
Gaucher Disease
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.
Metabolic disorders 2019
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.
Von Gierke's Disease
This document discusses glycogen storage disorders (GSD), specifically GSD type 1a (von Gierke's disease). It begins with an overview and lists the different types of GSD. It then provides more details on the background, causes, signs and symptoms, diagnosis, and treatment of GSD type 1a. GSD type 1a is caused by a deficiency of the glucose-6-phosphatase enzyme and results in glycogen accumulation in the liver and kidneys. Patients experience hypoglycemia, lactic acidosis, ketosis, and hyperlipidemia. Diagnosis involves blood and urine tests and liver biopsy to check enzyme levels. Treatment focuses on dietary management to avoid low blood glucose.
Lysosomal storage diseases
Lysosomal storage diseases (LSDs) are a group of over 50 inherited metabolic disorders caused by defects in lysosomal function. The main types are sphingolipidoses, mucopolysaccharidoses, and glycoproteinoses. Symptoms often involve the brain and nervous system. On MRI, the corpus callosum may be not visualized or partially visualized in some LSDs. Histopathology reveals neuronal storage material, spheroids in white matter, and membranous cytoplasmic bodies in neurons. LSDs can also affect dogs and cats, with clinical signs appearing in early life and pathology showing tissue storage.
Inborn errors of carbohydrate metabolism
Inborn errors of metabolism
Definition:- These are a group of rare genetic disorders in which the body cannot metabolize food components normally.
These disorders are usually caused by defects in the enzymes involved in the biochemical pathways that break down very essential biochemical components.
Mucopolysaccharidoses
definition ,types,causes,presentations,most common types,diagnosis ,differential diagnosis ,treatment ,prevention
LIPID STORAGE DISEASES
This document summarizes four lysosomal storage disorders: Niemann-Pick disease, Gaucher's disease, Krabbe's disease, and Farber's disease. Each disease is caused by a defect in an enzyme involved in sphingolipid metabolism, leading to accumulation of specific sphingolipids in tissues. The diseases are characterized by organomegaly, skeletal abnormalities, dermatological issues, neurological impairment, and early mortality.
Galactosemia ppt
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.
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.
Alpha antitrypsin deficiency
Alpha-1 Antitrypsin Deficiency is an autosomal recessive disease caused by mutations in the SERPINA1 gene resulting in low levels of alpha-1 antitrypsin (AAT) protein. This puts individuals at risk for lung and liver disease. In the lungs, a lack of AAT allows proteases to destroy tissue and cause emphysema. In the liver, mutated AAT accumulates in hepatocytes and can lead to cirrhosis. The disease is diagnosed through blood tests measuring AAT levels and treated through AAT augmentation therapy or liver transplantation for end-stage liver disease.
Mitochondrial diseases
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.
gaucher disease Presentation1
Type 2 Gaucher disease is a rare genetic disorder caused by a defective gene that inhibits the body's ability to break down a fatty lipid called glucocerebroside. This causes the fatty material to accumulate in organs like the spleen, liver, lungs and bone marrow. Type 2 Gaucher disease specifically affects the central nervous system, with initial signs including neck hyperextension, swallowing issues and eye movement disorders. Affected children usually experience rapid neurological degeneration and die by age 2. The article reviews 15 new cases of Type 2 Gaucher disease and compares them to 104 published cases to better understand the signs, symptoms and progression of this rare condition.
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.
Porphyria
Porphyrias are a group of rare genetic disorders caused by deficiencies in enzymes involved in heme synthesis. This results in the accumulation of toxic heme precursors known as porphyrins. There are two main types - cutaneous porphyrias which present with skin symptoms like blistering rashes, and acute hepatic porphyrias which present with severe neurological symptoms. The specific porphyrin accumulated and symptoms depend on which enzyme is deficient. Diagnosis involves biochemical analysis of porphyrins in urine, stool or blood. There is no cure, but acute attacks can be prevented by avoiding triggers.
GLYCOGEN STORAGE DISEASE , GSD , Von Gierke Disease
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
Lipids
Lipids are naturally occurring organic compounds that are soluble in organic solvents but insoluble in water. They include fats, oils, waxes, phospholipids, and steroids. Lipids are classified as simple lipids like triglycerides and waxes, or compound lipids like phospholipids. The main roles of lipids include serving as energy stores, components of cell membranes, and intermediaries in signaling pathways. Essential lipids like omega-3 and omega-6 fatty acids must be obtained through diet as the body cannot produce them. Lipids are important for many biological functions including energy storage, cell membrane structure, hormone synthesis, and brain and vision health.
Dr. Prabhakar Singh SEM-III_Fatty Acid Oxidation
Dr. Prabhakar Singh SEM-III_Fatty Acid OxidationDepartment of Biochemistry, Veer Bahadur Singh Purvanchal Univarsity, Jaunpur
This document summarizes metabolism of lipids. It discusses hydrolysis of triacylglycerols into fatty acids, oxidation of fatty acids through beta-oxidation within mitochondria, and oxidation of odd-numbered fatty acids including propionate. It also covers degradation of more complex lipids like phytanic acid within peroxisomes, as well as biosynthesis of fatty acids.More Related Content
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ALCOHOL METABOLISM
Alcohol is absorbed from the stomach and intestine and metabolized primarily in the liver. The liver enzyme alcohol dehydrogenase oxidizes ethanol to acetaldehyde, which is then further oxidized to acetate. A small amount of alcohol is eliminated through the lungs, urine, and sweat, while the majority is metabolized in the liver. The metabolism of alcohol increases the NADH/NAD+ ratio in the liver, leading to metabolic alterations like lactic acidosis, hypoglycemia, and fatty liver. Chronic alcohol use can also damage the liver and brain, potentially causing cirrhosis and neurological issues.
Niemann Pick Disease (Nafisa Nawal Islam)
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.
GLCOGEN STORAGE DISORDERS
GSD are inherited disorders of glycogen metabolism caused by defects in glycogen degradation, glycolysis or glycogen synthesis. They can affect the liver, muscle or be generalized. GSD I is the most severe liver GSD affecting glycogen breakdown and gluconeogenesis. It presents in infancy with hypoglycemia, hepatomegaly and growth retardation. Treatment involves preventing hypoglycemia through frequent feeds and nocturnal gastric feeding. GSD III is caused by debranching enzyme deficiency and can present with liver or muscle involvement. Symptoms are similar to GSD I in childhood but improve with age, while myopathy often appears later in life.
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.
LIPID STORAGE DISEASES MUHAMMAD MUSTANSAR FJMC LAHORE
This document discusses several lipid storage diseases including Tay-Sachs disease, Gaucher's disease, Niemann-Pick disease, and Fabry's disease. [1] These diseases arise from deficiencies in specific lysosomal enzymes, leading to accumulation of enzyme substrates in tissues. [2] They are inherited autosomally recessive except for Fabry's disease which is X-linked. [3] The document provides details on the genetic causes and clinical manifestations of each disease.
Gaucher Disease
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.
Metabolic disorders 2019
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.
Von Gierke's Disease
This document discusses glycogen storage disorders (GSD), specifically GSD type 1a (von Gierke's disease). It begins with an overview and lists the different types of GSD. It then provides more details on the background, causes, signs and symptoms, diagnosis, and treatment of GSD type 1a. GSD type 1a is caused by a deficiency of the glucose-6-phosphatase enzyme and results in glycogen accumulation in the liver and kidneys. Patients experience hypoglycemia, lactic acidosis, ketosis, and hyperlipidemia. Diagnosis involves blood and urine tests and liver biopsy to check enzyme levels. Treatment focuses on dietary management to avoid low blood glucose.
Lysosomal storage diseases
Lysosomal storage diseases (LSDs) are a group of over 50 inherited metabolic disorders caused by defects in lysosomal function. The main types are sphingolipidoses, mucopolysaccharidoses, and glycoproteinoses. Symptoms often involve the brain and nervous system. On MRI, the corpus callosum may be not visualized or partially visualized in some LSDs. Histopathology reveals neuronal storage material, spheroids in white matter, and membranous cytoplasmic bodies in neurons. LSDs can also affect dogs and cats, with clinical signs appearing in early life and pathology showing tissue storage.
Inborn errors of carbohydrate metabolism
Inborn errors of metabolism
Definition:- These are a group of rare genetic disorders in which the body cannot metabolize food components normally.
These disorders are usually caused by defects in the enzymes involved in the biochemical pathways that break down very essential biochemical components.
Mucopolysaccharidoses
definition ,types,causes,presentations,most common types,diagnosis ,differential diagnosis ,treatment ,prevention
LIPID STORAGE DISEASES
This document summarizes four lysosomal storage disorders: Niemann-Pick disease, Gaucher's disease, Krabbe's disease, and Farber's disease. Each disease is caused by a defect in an enzyme involved in sphingolipid metabolism, leading to accumulation of specific sphingolipids in tissues. The diseases are characterized by organomegaly, skeletal abnormalities, dermatological issues, neurological impairment, and early mortality.
Galactosemia ppt
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.
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.
Alpha antitrypsin deficiency
Alpha-1 Antitrypsin Deficiency is an autosomal recessive disease caused by mutations in the SERPINA1 gene resulting in low levels of alpha-1 antitrypsin (AAT) protein. This puts individuals at risk for lung and liver disease. In the lungs, a lack of AAT allows proteases to destroy tissue and cause emphysema. In the liver, mutated AAT accumulates in hepatocytes and can lead to cirrhosis. The disease is diagnosed through blood tests measuring AAT levels and treated through AAT augmentation therapy or liver transplantation for end-stage liver disease.
Mitochondrial diseases
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.
gaucher disease Presentation1
Type 2 Gaucher disease is a rare genetic disorder caused by a defective gene that inhibits the body's ability to break down a fatty lipid called glucocerebroside. This causes the fatty material to accumulate in organs like the spleen, liver, lungs and bone marrow. Type 2 Gaucher disease specifically affects the central nervous system, with initial signs including neck hyperextension, swallowing issues and eye movement disorders. Affected children usually experience rapid neurological degeneration and die by age 2. The article reviews 15 new cases of Type 2 Gaucher disease and compares them to 104 published cases to better understand the signs, symptoms and progression of this rare condition.
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.
Porphyria
Porphyrias are a group of rare genetic disorders caused by deficiencies in enzymes involved in heme synthesis. This results in the accumulation of toxic heme precursors known as porphyrins. There are two main types - cutaneous porphyrias which present with skin symptoms like blistering rashes, and acute hepatic porphyrias which present with severe neurological symptoms. The specific porphyrin accumulated and symptoms depend on which enzyme is deficient. Diagnosis involves biochemical analysis of porphyrins in urine, stool or blood. There is no cure, but acute attacks can be prevented by avoiding triggers.
GLYCOGEN STORAGE DISEASE , GSD , Von Gierke Disease
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
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Approach to Inborn Errors of Metabolism .. Dr.Padmesh
Approach to Inborn Errors of Metabolism .. Dr.Padmesh
LIPID STORAGE DISEASES MUHAMMAD MUSTANSAR FJMC LAHORE
LIPID STORAGE DISEASES MUHAMMAD MUSTANSAR FJMC LAHORE
GLYCOGEN STORAGE DISEASE , GSD , Von Gierke Disease
GLYCOGEN STORAGE DISEASE , GSD , Von Gierke Disease
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Lipids are naturally occurring organic compounds that are soluble in organic solvents but insoluble in water. They include fats, oils, waxes, phospholipids, and steroids. Lipids are classified as simple lipids like triglycerides and waxes, or compound lipids like phospholipids. The main roles of lipids include serving as energy stores, components of cell membranes, and intermediaries in signaling pathways. Essential lipids like omega-3 and omega-6 fatty acids must be obtained through diet as the body cannot produce them. Lipids are important for many biological functions including energy storage, cell membrane structure, hormone synthesis, and brain and vision health.
Dr. Prabhakar Singh SEM-III_Fatty Acid Oxidation
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Fatty acid oxidation
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Lipid chemistry
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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.
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3. Symptoms vary depending on the specific disorder and tissues affected, but often include organ enlargement, neurological issues, and early death if left untreated. Treatment options include enzyme replacement therapy, organ transplantation, and symptom management depending on the condition.
Neurometabolic Diseases of Childhood.pptx
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These are local hormones called autacoids that are produced and act near their site of production. Key autacoids discussed include histamine, bradykinin, serotonin, prostaglandins, leukotrienes, thromboxanes, and platelet-activating factor. Histamine causes allergic reactions and is involved in gastric secretion. Bradykinin causes pain and inflammation. Prostaglandins regulate gastric acid secretion and platelet aggregation. Autacoids act through G-protein coupled receptors and are involved in processes like inflammation and smooth muscle contraction. H1 receptor antagonists and H2 receptor antagonists are used to treat allergic disorders and gastric acid conditions, respectively.
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+
53.13485
−
27.82088
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2.903
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0.007
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�
(
�
−
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)
∼
0.9
) despite a host galaxy with low-extinction and has a high Ca II velocity (
19
,
000
±
2
,
000
km/s) compared to the general population of SNe Ia. While these characteristics are consistent with some Ca-rich SNe Ia, particularly SN 2016hnk, SN 2023adsy is intrinsically brighter than the low-
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Ca-rich population. Although such an object is too red for any low-
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cosmological sample, we apply a fiducial standardization approach to SN 2023adsy and find that the SN 2023adsy luminosity distance measurement is in excellent agreement (
≲
1
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) with
Λ
CDM. Therefore unlike low-
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Ca-rich SNe Ia, SN 2023adsy is standardizable and gives no indication that SN Ia standardized luminosities change significantly with redshift. A larger sample of distant SNe Ia is required to determine if SN Ia population characteristics at high-
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truly diverge from their low-
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counterparts, and to confirm that standardized luminosities nevertheless remain constant with redshift.
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Description:
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Refsum disease
- 2. Outline • Definition • Genetic makeup • Clinical components • Cause of disorder • Symptoms • Treatment • Prognosis
- 3. REFSUMS DISEASE • Disorder associated with impaired oxidation of phytanic acid and elevated phytanic levels in CNS • Norwegian neurologist Sigvald Bernhard Refsum (1907–1991) • 1945 • Level of phytanic acid in blood – Normal - ≤ 0.2mg/dl – Refsum disease - 10-50mg/dl
- 4. GENETIC makeup • Autosomal recessive • Refsum disease 1 -Phytanoyl-CoA hydroxylase • Refsum disease 2 • Peroxin 7 • Europeans • Gene:-PHYH
- 5. Clinical components • Pertinent physical findings include cardiac, and skin defects. • Neurologic/ophthalmologic signs are as follows: – Nystagmus – Retinitis Pigmentosa – Anosmia – Sensorineural deafness
- 6. Phytanoyl-CoA hydroxylase Gene • Locus: 10p13
- 7. Causes of disorder • Abnormal buildup of fatty acid called a phytanic acid • Normally broken down by Peroxisomes
- 8. Symptoms • Night blindness • Retinitis Pigmentosa • Deafness • Dry, scaly skin • Shortened fingers or toes
- 9. DIAGNOSIS • Chronic and intermittent polyneuritis • Relapsing infectious polyneuritis • mitochondrial myopathies • Acute intermittent porphyria • Recurrent exposure to toxins • Various hereditary motor neuropathies
- 10. TREATMENT DIET • Less amount of phytanic acid in diet • Slow progression of eye/hearing changes Plasmapheresis:-plasma exchange
- 11. Prognosis Refsum disease is treatable although incurable Even if improved by diet, although changes in vision, hearing, and sense of smell may be irreversible
- 12. Phytanic acid is found in foods like dairy products and beef