| H01349 | |
| H番号 | H01349 |
| 名称 | メタクリル酸尿症 |
| 概要 | 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. |
| カテゴリ | 先天性代謝異常症, ミトコンドリア病 |
| ネットワーク | nt06024(H01349) Valine, leucine and isoleucine degradation |
| 病因遺伝子 | HIBCH [HSA:26275] [KO:K05605] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C50.E ICD-10: E71.1 MeSH: C562803 OMIM: 250620 |
| 文献 | PMID:17160907 著者 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 タイトル Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration. 雑誌 Am J Hum Genet 80:195-9 (2007) DOI:10.1086/510725 PMID:24299452 著者 Ferdinandusse S, Waterham HR, Heales SJ, Brown GK, Hargreaves IP, Taanman JW, Gunny R, Abulhoul L, Wanders RJ, Clayton PT, Leonard JV, Rahman S タイトル HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase. 雑誌 Orphanet J Rare Dis 8:188 (2013) DOI:10.1186/1750-1172-8-188 |