| H00185 | |
| H number | H00185 |
| Name | Citrullinemia |
| Description | Citrullinemia (CTLN) is an autosomal recessive disease caused by a deficiency of argininosuccinate synthetase/citrin and characterized primarily by elevated serum and urine citrulline levels. |
| Category | Inherited metabolic disorder |
| Network | nt06010(H00185) Urea cycle |
| Gene | (CTLN1) ASS1 [HSA:445] [KO:K01940] (CTLN2) SLC25A13 [HSA:10165] [KO:K15105] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Sodium phenylbutyrate [DR:D05868] |
| Comment | - |
| Other DBs | ICD-11: 5C50.A3 ICD-10: E72.2 MeSH: D020159 OMIM: 215700 603471 605814 |
| Reference | PMID:18473344 (ASS1) AUTHORS Berning C, Bieger I, Pauli S, Vermeulen T, Vogl T, Rummel T, Hohne W, Koch HG, Rolinski B, Gempel K, Haberle J TITLE Investigation of citrullinemia type I variants by in vitro expression studies. JOURNAL Hum Mutat 29:1222-7 (2008) DOI:10.1002/humu.20784 PMID:15050970 (SLC25A13) AUTHORS Saheki T, Kobayashi K, Iijima M, Horiuchi M, Begum L, Jalil MA, Li MX, Lu YB, Ushikai M, Tabata A, Moriyama M, Hsiao KJ, Yang Y TITLE Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle. JOURNAL Mol Genet Metab 81 Suppl 1:S20-6 (2004) DOI:10.1016/j.ymgme.2004.01.006 PMID:12424587 (SLC25A13) AUTHORS Tamamori A, Okano Y, Ozaki H, Fujimoto A, Kajiwara M, Fukuda K, Kobayashi K, Saheki T, Tagami Y, Yamano T TITLE Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation. JOURNAL Eur J Pediatr 161:609-13 (2002) DOI:10.1007/s00431-002-1045-2 |