Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type I |
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Authors: | Busquets C Soriano M de Almeida I T Garavaglia B Rimoldi M Rivera I Uziel G Cabral A Coll M J Ribes A |
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Affiliation: | Institut de Bioquímica Clínica, Barcelona, Spain. |
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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. |
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