Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type 1

Christiane Busquets, Mercedes Soriano, Isabel Tavares De Almeida, Barbara Garavaglia, Marco Rimoldi, Isabel Rivera, Graziella Uziel, Aguinaldo Cabral, M. Josep Coll, Antonia Ribes

Research output: Contribution to journalArticlepeer-review

Abstract

Two novel (G390V and X439W) and five already known mutations were identified in a total of 14 GA I alleles from Italy and Portugal. The substitution X439W is a rare type of mutation, which breaks the stop codon of the GCDH gene. As described in other populations, R402W was the most common mutation. Genotype R227P/R402W was found in a patient with low glutarate excretion. Haplotype studies have also been performed. (C) 2000 Academic Press.

Original languageEnglish
Pages (from-to)535-537
Number of pages3
JournalMolecular Genetics and Metabolism
Volume71
Issue number3
DOIs
Publication statusPublished - 2000

Keywords

  • GCDH mutations
  • Glutaric aciduria type I
  • Glutaryl-CoA dehydrogenase
  • RFLP haplotypes

ASJC Scopus subject areas

  • Biochemistry
  • Genetics
  • Endocrinology, Diabetes and Metabolism

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