| H00173 | |
| H number | H00173 |
| Name | Isovaleric acidemia |
| Description | Isovaleric acidemia (IVA) is an autosomal recessive inborn error of leucine metabolism caused by a deficiency of the mitochondrial enzyme isovaleryl-CoA dehydrogenase resulting in the accumulation of derivatives of isovaleryl-CoA. |
| Category | Inherited metabolic disorder |
| Network | nt06024(H00173) Valine, leucine and isoleucine degradation |
| Gene | IVD [HSA:3712] [KO:K00253] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C50.E0 ICD-10: E71.1 MeSH: C538167 OMIM: 243500 |
| Reference | PMID:16602101 AUTHORS Vockley J, Ensenauer R TITLE Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity. JOURNAL Am J Med Genet C Semin Med Genet 142C:95-103 (2006) DOI:10.1002/ajmg.c.30089 PMID:15486829 AUTHORS Ensenauer R, Vockley J, Willard JM, Huey JC, Sass JO, Edland SD, Burton BK, Berry SA, Santer R, Grunert S, Koch HG, Marquardt I, Rinaldo P, Hahn S, Matern D TITLE A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. JOURNAL Am J Hum Genet 75:1136-42 (2004) DOI:10.1086/426318 |