loading...| Preferred Name |
Acidemia, isovaleric |
| Synonyms |
Isovaleryl-CoA Dehydrogenase Deficiency |
| ID |
http://purl.bioontology.org/ontology/MESH/C538167 |
| altLabel |
Isovaleryl-CoA Dehydrogenase Deficiency Isovaleryl CoA carboxylase deficiency Isovaleric Acid-CoA Dehydrogenase Deficiency Isovaleric acidemia Isovaleric acid CoA dehydrogenase deficiency |
| cui |
C0268575 |
| Has mapping qualifier | |
| HM |
D050769/Q000172 D000592 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20100625 |
| MeSH Frequency |
51 |
| MMR |
20190618 |
| notation |
C538167 |
| prefLabel |
Acidemia, isovaleric |
| SC |
3 |
| Scope Statement |
A rare hereditary, autosomal recessive metabolic disorder. Two forms of isovaleric acidemia, possibly allelic, are recognized: the acute neonatal form, leading to massive ACIDOSIS and rapid death in the first days of life, and a chronic form in which periodic attacks of severe KETOSIS occur with asymptomatic intervening periods. Mutations in the IVD gene have been identified. OMIM: 243500 |
| TERMUI |
T844454 T744942 T744941 T844453 T744943 T744945 |
| TH |
ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |