1.
Clin Biochem
; 42(10-11): 1166-8, 2009 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19358837
RESUMO
OBJECTIVE: Citrullinemia type I (CTLN1) is an urea cycle defect caused by mutations in the argininosuccinate synthetase gene. We report the first identification in Argentina of patients with CTLN1 in a limited geographic area. DESIGN AND METHODS: Molecular analysis in patient/relatives included PCR, sequencing and restriction enzyme assay. RESULTS: The studied families showed the same mutation: ASS~p.G390R, associated with the early-onset/severe phenotype. CONCLUSION: We postulate a possible population cluster. A program to know the carrier frequency in that population is in progress.