honeypot link
skip to main content
Professional
Consumer
MSD Manual
Consumer Version
HEALTH TOPICS
HEALTHY LIVING
SYMPTOMS
EMERGENCIES
RESOURCES
COMMENTARY
ABOUT US
HEALTH TOPICS
HEALTHY LIVING
Home
/
Children's Health Issues
/
Hereditary Metabolic Disorders
/
Hereditary Metabolic Disorders
Expand all
Collapse all
Overview of Hereditary Metabolic Disorders
Heredity
Metabolism
Diagnosis
More Information
Mitochondrial Disorders
Leber Hereditary Optic Neuropathy (LHON)
Leigh Syndrome
Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes (MELAS)
More Information
Peroxisomal Disorders
Refsum Disease
Rhizomelic Chondrodysplasia Punctata
X-Linked Adrenoleukodystrophy
Zellweger Syndrome (ZS), Neonatal Adrenoleukodystrophy, and Infantile Refsum Disease (IRD)
More Information
Overview of Amino Acid Metabolism Disorders
More Information
Branched-Chain Amino Acid Metabolism Disorders
Isovaleric Acidemia
Maple Syrup Urine Disease
Methylmalonic Acidemia
Propionic Acidemia
More Information
Homocystinuria
Symptoms
Diagnosis
Treatment
More Information
Phenylketonuria (PKU)
Symptoms
Diagnosis
Treatment and Prevention
Prognosis
More Information
Tyrosinemia
Type I tyrosinemia
Type II tyrosinemia
Type III tyrosinemia
More Information
Hartnup Disease
Symptoms
Diagnosis
Treatment
Prognosis
Overview of Carbohydrate Metabolism Disorders
More Information
Galactosemia
Symptoms
Diagnosis
Treatment
Prognosis
More Information
Glycogen Storage Diseases
Symptoms
Diagnosis
Treatment
More Information
Hereditary Fructose Intolerance
Symptoms
Diagnosis
Treatment
More Information
Pyruvate Metabolism Disorders
Pyruvate Dehydrogenase Deficiency
Pyruvate Carboxylase Deficiency
More Information
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
More Information
Other Rare Hereditary Disorders of Lipid Metabolism
Cerebrotendinous Xanthomatosis
Sitosterolemia
More Information
Overview of Lysosomal Storage Disorders
More Information
Mucopolysaccharidoses
Symptoms
Diagnosis
Treatment
Prognosis
More Information
Cholesteryl Ester Storage Disease and Wolman Disease
Wolman disease
Cholesteryl ester storage disease
Diagnosis
Treatment
More Information
Fabry Disease
Diagnosis
Treatment
Prognosis
More Information
Gaucher Disease
Types
Diagnosis
Treatment
More Information
Krabbe Disease
Diagnosis
Treatment
More Information
Metachromatic Leukodystrophy
Forms
Diagnosis
Treatment
More Information
Niemann-Pick Disease
Types
Diagnosis
Treatment
More Information
Tay-Sachs Disease and Sandhoff Disease
Tay-Sachs Disease
Sandhoff Disease
More Information