Disorders of Carbohydrate Metabolism

  • Glycogen Storage Diseases (GSDs):
    • Type I (Von Gierke disease)
    • Type II (Pompe disease)
    • Type III (Cori-Forbes disease)
    • Type IV (Andersen disease)
    • Type V (McArdle disease)
    • Type VI (Hers disease)
    • Type VII (Tarui disease)
    • Type IX (Phosphorylase kinase deficiency)
    • Type 0 (Liver glycogen synthase deficiency)
  • Galactose metabolism disorders:
    • Galactosemia (GALT, GALE, and GALK deficiencies)
  • Fructose metabolism disorders:
    • Hereditary fructose intolerance
    • Fructose-1,6-bisphosphatase deficiency
  • Disorders of gluconeogenesis and glycolysis:
    • Pyruvate kinase deficiency
    • Pyruvate dehydrogenase complex deficiency
  • Lactic acidemia syndromes:
    • Pyruvate carboxylase deficiency
    • Disorders of the Cori cycle

Disorders of Amino Acid Metabolism

  • Phenylalanine metabolism disorders:
    • Phenylketonuria (PKU)
    • Hyperphenylalaninemia
  • Tyrosine metabolism disorders:
    • Tyrosinemia type I (fumarylacetoacetate hydrolase deficiency)
    • Tyrosinemia type II (tyrosine aminotransferase deficiency)
    • Tyrosinemia type III (4-hydroxyphenylpyruvate dioxygenase deficiency)
  • Branched-chain amino acid disorders:
    • Maple syrup urine disease (MSUD)
    • Isovaleric acidemia
    • 3-Methylcrotonyl-CoA carboxylase deficiency
  • Sulfur amino acid disorders:
    • Homocystinuria (cystathionine beta-synthase deficiency)
    • Cystinuria
    • Cystinosis
  • Other amino acid metabolism disorders:
    • Argininosuccinic aciduria
    • Non-ketotic hyperglycinemia (glycine encephalopathy)
    • Histidinemia
    • Hyperprolinemia (types I and II)

Disorders of Organic Acid Metabolism

  • Short-chain organic acidemias:
    • Propionic acidemia
    • Methylmalonic acidemia
    • Isovaleric acidemia
  • Dicarboxylic acidemias:
    • Glutaric acidemia type I
    • 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (HMG-CoA lyase deficiency)
    • Malonic acidemia
  • Multiple carboxylase deficiency:
    • Biotinidase deficiency
    • Holocarboxylase synthetase deficiency

Disorders of Lipid Metabolism

  • Fatty Acid Oxidation Disorders:
    • Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
    • Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency
    • Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency
    • Carnitine palmitoyltransferase deficiencies (CPT1 and CPT2)
    • Carnitine transporter defect
  • Peroxisomal disorders:
    • Zellweger spectrum disorders
    • Adrenoleukodystrophy
    • Refsum disease
  • Lysosomal lipid storage diseases:
    • Gaucher disease
    • Niemann-Pick disease types A, B, and C
    • Farber lipogranulomatosis
    • Wolman disease
    • Cholesteryl ester storage disease
  • Sphingolipidoses:
    • Tay-Sachs disease
    • Sandhoff disease
    • Krabbe disease
    • Fabry disease
    • Metachromatic leukodystrophy

Disorders of Energy Metabolism

  • Mitochondrial respiratory chain disorders:
    • MELAS (Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes)
    • Leigh syndrome
    • MERRF (Myoclonic epilepsy with ragged red fibers)
    • NARP (Neuropathy, ataxia, and retinitis pigmentosa)
    • Kearns-Sayre syndrome
  • Coenzyme Q10 deficiency
  • Pyruvate dehydrogenase complex deficiency
  • Krebs cycle enzyme deficiencies:
    • Fumarase deficiency
    • Succinate dehydrogenase deficiency

Disorders of Purine and Pyrimidine Metabolism

  • Purine metabolism disorders:
    • Lesch-Nyhan syndrome (HGPRT deficiency)
    • Adenine phosphoribosyltransferase deficiency
    • Xanthinuria
    • Adenylosuccinate lyase deficiency
  • Pyrimidine metabolism disorders:
    • Dihydropyrimidine dehydrogenase deficiency
    • Orotic aciduria

Disorders of Vitamin and Cofactor Metabolism

  • Biotin metabolism:
    • Biotinidase deficiency
    • Holocarboxylase synthetase deficiency
  • Thiamine metabolism:
    • Thiamine pyrophosphate synthetase deficiency
    • Thiamine-responsive megaloblastic anemia syndrome
  • Cobalamin (vitamin B12) metabolism:
    • Cobalamin C (CblC) defect
    • Methylmalonic acidemia with homocystinuria
  • Folate metabolism:
    • Cerebral folate deficiency
    • Methylenetetrahydrofolate reductase (MTHFR) deficiency
  • Vitamin D-dependent rickets (types I and II)

Disorders of Metal Metabolism

  • Copper metabolism:
    • Wilson disease
    • Menkes disease
  • Iron metabolism:
    • Hereditary hemochromatosis
    • Neurodegeneration with brain iron accumulation (NBIA)
  • Zinc metabolism:
    • Acrodermatitis enteropathica

Disorders of Urea Cycle Metabolism

  • Primary urea cycle disorders:
    • Carbamoyl phosphate synthetase I (CPSI) deficiency
    • Ornithine transcarbamylase (OTC) deficiency
    • Argininosuccinate lyase deficiency
    • Argininosuccinate synthetase deficiency (Citrullinemia type I)
    • Arginase deficiency (Argininemia)
  • Secondary urea cycle disorders:
    • N-acetylglutamate synthase (NAGS) deficiency

Lysosomal Storage Disorders

  • Mucopolysaccharidoses (MPS):
    • Hurler syndrome (MPS I)
    • Hunter syndrome (MPS II)
    • Sanfilippo syndrome (MPS III)
    • Morquio syndrome (MPS IV)
    • Maroteaux-Lamy syndrome (MPS VI)
    • Sly syndrome (MPS VII)
  • Oligosaccharidoses:
    • Mannosidosis
    • Fucosidosis
    • Schindler disease
  • Neuronal ceroid lipofuscinoses (NCLs):
    • CLN1 (Infantile)
    • CLN2 (Late infantile)
    • CLN3 (Juvenile Batten disease)

Disorders of Neurotransmitter Metabolism

  • Catecholamine and serotonin metabolism disorders:
    • Tyrosine hydroxylase deficiency
    • Aromatic L-amino acid decarboxylase (AADC) deficiency
  • GABA metabolism disorders:
    • Succinic semialdehyde dehydrogenase deficiency
  • Monoamine oxidase (MAO) deficiency
  • Pterin metabolism disorders:
    • Tetrahydrobiopterin (BH4) deficiency

Disorders of Cholesterol and Sterol Metabolism

  • Cholesterol synthesis disorders:
    • Smith-Lemli-Opitz syndrome (SLOS)
    • Lathosterolosis
    • Desmosterolosis
  • Sterol transport disorders:
    • Niemann-Pick type C
    • Sitosterolemia