| H01146 | |
| H番号 | H01146 |
| 名称 | アミノアシラーゼ1欠損症 |
| 概要 | Aminoacylase 1 deficiency is an autosomal recessive disease characterized by accumulation of N-acetyl amino acids in the urine. In affected individuals neurological findings such as febrile seizures, delay of psychomotor development and moderate mental retardation have been reported. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | - |
| 病因遺伝子 | ACY1 [HSA:95] [KO:K14677] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | Aminoacylase 2, also known as aspartoacylase (ASPA) hydrolyzes specifically N-acetyl-L-aspartate. ASPA deficiency causes spongy degeneration of the brain known as Canavan disease [DS:H00074] |
| リンク | ICD-11: 5C50.E1 MeSH: C538246 OMIM: 609924 |
| 文献 | PMID:21414403 著者 Sommer A, Christensen E, Schwenger S, Seul R, Haas D, Olbrich H, Omran H, Sass JO タイトル The molecular basis of aminoacylase 1 deficiency. 雑誌 Biochim Biophys Acta 1812:685-90 (2011) DOI:10.1016/j.bbadis.2011.03.005 PMID:16465618 著者 Sass JO, Mohr V, Olbrich H, Engelke U, Horvath J, Fliegauf M, Loges NT, Schweitzer-Krantz S, Moebus R, Weiler P, Kispert A, Superti-Furga A, Wevers RA, Omran H タイトル Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism. 雑誌 Am J Hum Genet 78:401-9 (2006) DOI:10.1086/500563 |