H01028 | |
H number | H01028 |
Name | Argininosuccinic aciduria; Argininosuccinate lyase deficiency |
Description | Arginosuccinicaciduria (ARGINSA) is an autosomal recessive disorder of the urea cycle that is caused by defects in argininosuccinate lyase. ARGINSA is characterized by mental and physical retardation, liver enlargement, skin lesions, dry and brittle hair showing trichorrhexis nodosa microscopically and fluorescing red, convulsions, and episodic unconsciousness. |
Category | Inherited metabolic disorder |
Network | nt06010(H01028) Urea cycle |
Gene | ASL [HSA:435] [KO:K01755] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 5C50.A0 ICD-10: E72.2 MeSH: D056807 OMIM: 207900 |
Reference | PMID:21290785 AUTHORS Nagamani SCS, Erez A, Lee B TITLE Argininosuccinate Lyase Deficiency JOURNAL GeneReviews (1993) PMID:20298553 AUTHORS Imtiaz F, Al-Sayed M, Trabzuni D, Al-Mubarak BR, Alsmadi O, Rashed MS, Meyer BF TITLE Novel mutations underlying argininosuccinic aciduria in Saudi Arabia. JOURNAL BMC Res Notes 3:79 (2010) DOI:10.1186/1756-0500-3-79 PMID:11148543 TITLE Consensus statement from a conference for the management of patients with urea cycle disorders. JOURNAL J Pediatr 138:S1-5 (2001) DOI:10.1067/mpd.2001.111830 PMID:22541557 AUTHORS Nagamani SC, Campeau PM, Shchelochkov OA, Premkumar MH, Guse K, Brunetti-Pierri N, Chen Y, Sun Q, Tang Y, Palmer D, Reddy AK, Li L, Slesnick TC, Feig DI, Caudle S, Harrison D, Salviati L, Marini JC, Bryan NS, Erez A, Lee B TITLE Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria. JOURNAL Am J Hum Genet 90:836-46 (2012) DOI:10.1016/j.ajhg.2012.03.018 |