title: Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type I.
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.
authors.affiliation: Institut de Bioquímica Clínica, Barcelona, Spain.
authors.forename: C
authors.initials: C
authors.lastname: Busquets
authors.forename: M
authors.initials: M
authors.lastname: Soriano
authors.forename: I T
authors.initials: IT
authors.lastname: de Almeida
authors.forename: B
authors.initials: B
authors.lastname: Garavaglia
authors.forename: M
authors.initials: M
authors.lastname: Rimoldi
authors.forename: I
authors.initials: I
authors.lastname: Rivera
authors.forename: G
authors.initials: G
authors.lastname: Uziel
authors.forename: A
authors.initials: A
authors.lastname: Cabral
authors.forename: M J
authors.initials: MJ
authors.lastname: Coll
authors.forename: A
authors.initials: A
authors.lastname: Ribes
mesh_terms: D019943:Amino Acid Substitution; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005838:Genotype; D005977:Glutarates / Q000652:urine*; D050770:Glutaryl-CoA Dehydrogenase; D006239:Haplotypes; D006801:Humans; D007558:Italy; D008661:Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics* / Q000652:urine; D009154:Mutation; D010088:Oxidoreductases / Q000235:genetics*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D018807:Polymorphism, Single-Stranded Conformational; D011174:Portugal
chemical_list: D005977:Glutarates; D004247:DNA; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; D050770:Glutaryl-CoA Dehydrogenase