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 |