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Types of inborn errors of metabolism

Types of inborn errors of metabolism
Disorders of intermediary metabolism
Amino acid metabolism and transport
Fatty acid oxidation and ketogenesis
Carbohydrate metabolism and transport
Vitamin related (cobalamin, folate)
Peptide metabolism
Mineral metabolism
Mitochondrial energy metabolism
Disorders of biosynthesis and breakdown of complex molecules
Purine and pyrimidine metabolism
Lysosomal storage
Isoprenoid and sterol metabolism
Bile acid and heme metabolism
Lipoprotein metabolism
Disorders of neurotransmitter metabolism
Glycine and serine metabolism
Pterin and biogenic amine metabolism
Gamma-aminobutyrate metabolism
Other (eg, pyridoxine-dependent or folinic acid-dependent seizures, sulfite oxidase deficiency)
Source: Hoffman GF, Nyhan WL, Zschocke J, et al. Inherited metabolic diseases, Lippincott Williams & Wilkins, Philadelphia 2002.
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