Hereditary Metabolic Disorders

Expand allCollapse 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