Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type I.
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.
Busquets
C
C
Institut de Bioquímica Clínica, Barcelona, Spain.
Soriano
M
M
de Almeida
I T
IT
Garavaglia
B
B
Rimoldi
M
M
Rivera
I
I
Uziel
G
G
Cabral
A
A
Coll
M J
MJ
Ribes
A
A
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
D005977:Glutarates; D004247:DNA; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; D050770:Glutaryl-CoA Dehydrogenase