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

Mol Genet Metab. 2000 Nov;71(3):535-7. doi: 10.1006/mgme.2000.3082.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Genotype
  • Glutarates / urine*
  • Glutaryl-CoA Dehydrogenase
  • Haplotypes
  • Humans
  • Italy
  • Metabolism, Inborn Errors / enzymology
  • Metabolism, Inborn Errors / genetics*
  • Metabolism, Inborn Errors / urine
  • Mutation
  • Oxidoreductases / genetics*
  • Oxidoreductases Acting on CH-CH Group Donors*
  • Polymorphism, Single-Stranded Conformational
  • Portugal

Substances

  • Glutarates
  • DNA
  • Oxidoreductases
  • Oxidoreductases Acting on CH-CH Group Donors
  • Glutaryl-CoA Dehydrogenase