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Hereditary Metabolic Disorders
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Hereditary Metabolic Disorders
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Overview of Hereditary Metabolic Disorders
Heredity
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
Refsum Disease
Rhizomelic Chondrodysplasia Punctata
X-Linked Adrenoleukodystrophy
Zellweger Syndrome (ZS), Neonatal Adrenoleukodystrophy, and Infantile Refsum Disease (IRD)
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Overview of Amino Acid Metabolism Disorders
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Branched-Chain Amino Acid Metabolism Disorders
Isovaleric Acidemia
Maple Syrup Urine Disease
Methylmalonic Acidemia
Propionic Acidemia
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Homocystinuria
Symptoms
Diagnosis
Treatment
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Phenylketonuria (PKU)
Symptoms
Diagnosis
Treatment and Prevention
Prognosis
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Tyrosinemia
Type I tyrosinemia
Type II tyrosinemia
Type III tyrosinemia
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Hartnup Disease
Symptoms
Diagnosis
Treatment
Prognosis
Overview of Carbohydrate Metabolism Disorders
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Galactosemia
Symptoms
Diagnosis
Treatment
Prognosis
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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 Deficiency
Pyruvate Carboxylase Deficiency
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Fatty Acid Oxidation Disorders
Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)
Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD)
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD)
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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Mucopolysaccharidoses
Symptoms
Diagnosis
Treatment
Prognosis
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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
Prognosis
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Gaucher Disease
Types
Diagnosis
Treatment
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Krabbe Disease
Diagnosis
Treatment
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Metachromatic Leukodystrophy
Forms
Diagnosis
Treatment
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Niemann-Pick Disease
Types
Diagnosis
Treatment
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Tay-Sachs Disease and Sandhoff Disease
Tay-Sachs Disease
Sandhoff Disease
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