Version May 2024
| 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 |
| Peroxisomes |
| Isoprenoid and sterol metabolism |
| Bile acid and heme metabolism |
| Glycosylation |
| 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) |
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