| H01349 | |
| H number | H01349 |
| Name | Methacrylic aciduria; 3-Hydroxy-isobutyryl-CoA hydrolase deficiency |
| Description | Methacrylic aciduria is a very rare cerebral organic aciduria caused by 3-Hydroxy-isobutyryl-CoA hydrolase (HIBCH) mutations. HIBCH is a mitochondrial enzyme of valine catabolism. Patients demonstrated delayed development of motor skills, hypotonia, initial poor feeding, and a deterioration in neurological function during the first stages of life. |
| Category | Inherited metabolic disorder, Mitochondrial disease |
| Network | nt06024(H01349) Valine, leucine and isoleucine degradation |
| Gene | HIBCH [HSA:26275] [KO:K05605] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C50.E ICD-10: E71.1 MeSH: C562803 OMIM: 250620 |
| Reference | PMID:17160907 AUTHORS Loupatty FJ, Clayton PT, Ruiter JP, Ofman R, Ijlst L, Brown GK, Thorburn DR, Harris RA, Duran M, Desousa C, Krywawych S, Heales SJ, Wanders RJ TITLE Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration. JOURNAL Am J Hum Genet 80:195-9 (2007) DOI:10.1086/510725 PMID:24299452 AUTHORS Ferdinandusse S, Waterham HR, Heales SJ, Brown GK, Hargreaves IP, Taanman JW, Gunny R, Abulhoul L, Wanders RJ, Clayton PT, Leonard JV, Rahman S TITLE HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase. JOURNAL Orphanet J Rare Dis 8:188 (2013) DOI:10.1186/1750-1172-8-188 |