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Hereditary Metabolic Disorders
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Hereditary Metabolic Disorders
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Overview of Hereditary Metabolic Disorders
Metabolism
Diagnosis
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Mitochondrial Disorders
Leber hereditary optic neuropathy (LHON)
Leigh syndrome
Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS)
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Peroxisomal Disorders
X-linked adrenoleukodystrophy
Zellweger syndrome (ZS), neonatal adrenoleukodystrophy, and infantile Refsum disease (IRD)
Refsum disease
Rhizomelic chondrodysplasia punctata
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Overview of Amino Acid Metabolism Disorders
Branched-Chain Amino Acids
Isovaleric acidemia
Maple syrup urine disease
Methylmalonic acidemia
Propionic acidemia
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Homocystinuria
Symptoms
Diagnosis
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Phenylketonuria (PKU)
Symptoms
Diagnosis
Prognosis
Prevention and Treatment
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Tyrosinemia
Type I tyrosinemia
Type II tyrosinemia
Type III tyrosinemia
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Overview of Carbohydrate Metabolism Disorders
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Galactosemia
Symptoms
Diagnosis
Prognosis
Treatment
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Glycogen Storage Diseases
Symptoms
Diagnosis
Treatment
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Hereditary Fructose Intolerance
Symptoms
Diagnosis
Treatment
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Pyruvate Metabolism Disorders
Pyruvate dehydrogenase complex deficiency
Absence of pyruvate carboxylase (pyruvate carboxylase deficiency)
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Fatty Acid Oxidation Disorders
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency
Glutaric acidemia type II
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Other Rare Hereditary Disorders of Lipid Metabolism
Cerebrotendinous xanthomatosis
Sitosterolemia
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Overview of Lysosomal Storage Disorders
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Cholesteryl Ester Storage Disease and Wolman Disease
Wolman disease
Cholesteryl ester storage disease
Diagnosis
Treatment
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Fabry Disease
Diagnosis
Treatment
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Gaucher Disease
Types of Gaucher disease
Diagnosis
Treatment
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Krabbe Disease
Diagnosis
Treatment
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Metachromatic Leukodystrophy
Types of metachromatic leukodystrophy
Diagnosis
Treatment
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Mucopolysaccharidoses
Types of mucopolysaccharidosis
Symptoms
Diagnosis
Prognosis
Treatment
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Niemann-Pick Disease
Types of Niemann-Pick disease
Diagnosis
Treatment
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Tay-Sachs Disease and Sandhoff Disease
Tay-Sachs disease
Sandhoff disease
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