Citrullinemia type I, classical variant. Identification of ASS-p~G390R (c.1168G>A) mutation in families of a limited geographic area of Argentina: a possible population cluster

Clin Biochem. 2009 Jul;42(10-11):1166-8. doi: 10.1016/j.clinbiochem.2009.03.024. Epub 2009 Apr 7.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution / genetics*
  • Argentina
  • Argininosuccinate Synthase / genetics*
  • Citrullinemia / enzymology*
  • Citrullinemia / genetics*
  • Family
  • Female
  • Genetics, Population*
  • Genotype
  • Geography
  • Humans
  • Infant, Newborn
  • Male
  • Mutation / genetics*
  • Pedigree

Substances

  • Argininosuccinate Synthase