| H01146 | |
| H number | H01146 |
| Name | Aminoacylase 1 deficiency |
| Description | 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. |
| Category | Inherited metabolic disorder |
| Network | - |
| Gene | ACY1 [HSA:95] [KO:K14677] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | 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] |
| Other DBs | ICD-11: 5C50.E1 MeSH: C538246 OMIM: 609924 |
| Reference | PMID:21414403 AUTHORS Sommer A, Christensen E, Schwenger S, Seul R, Haas D, Olbrich H, Omran H, Sass JO TITLE The molecular basis of aminoacylase 1 deficiency. JOURNAL Biochim Biophys Acta 1812:685-90 (2011) DOI:10.1016/j.bbadis.2011.03.005 PMID:16465618 AUTHORS 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 TITLE Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism. JOURNAL Am J Hum Genet 78:401-9 (2006) DOI:10.1086/500563 |