MSUD (type Ia) | H00172 | Maple syrup urine disease |
MSUD (type Ib) | H00172 | Maple syrup urine disease |
MSUD (type II) | H00172 | Maple syrup urine disease |
MSUD (type III) | H02000 | Dihydrolipoamide dehydrogenase deficiency |
Isovaleric acidemia | H00173 | Isovaleric acidemia |
3-Methylcrotonylglycinuria | H00181 | 3-Methylcrotonylglycinuria |
MGCA1 | H00754 | 3-Methylglutaconic aciduria |
HL deficiency | H00179 | 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency |
IBD deficiency | H01279 | Isobutyryl-CoA dehydrogenase deficiency |
Methacrylic aciduria | H01349 | Methacrylic aciduria |
MMSDH deficiency | H02285 | Methylmalonate semialdehyde dehydrogenase deficiency |
SBCAD deficiency | H00375 | SBCAD deficiency |
MHBD deficiency | H00925 | 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency |
Propionic acidemia | H00175 | Propionic acidemia |
MCE deficiency | H00174 | Methylmalonic aciduria |
MMA mut type | H00174 | Methylmalonic aciduria |