Study of Pyrimidine Metabolism Disorders (2) : Biochemical and molecular analyses on asymptomatic dihydropyrimidinuria and high-pyrimidinuria

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Study of Pyrimidine Metabolism Disorders (2) : Biochemical and molecular analyses on asymptomatic dihydropyrimidinuria and high-pyrimidinuria1. DihydropyrirnidinuriaWe performed a molecular analysis on 4 asymptomatic dihydropyrimidinuria who had been detected by the urinary screening examination. Each exon (1 - 9) of the gene coding for dihydropyrimidinase was amplified by PCRamplification. The PCR products was subcloned and sequenced. We identified two missence mutations and one frarneshift mutations. Two related adults were homozygous for the 1001G transiton. One unrelated infant was heterozygous for the 1001G transition and the InsA.Onother unrelated infant was heterozygous for the A1001G transition and the G1303A.2. Dihydropyrimidin dehydrogenase deficiencyWe analysed the dihydropyrimidine dehydrogenase gene in a patient with a severe fluorouracil toxicity, and identified novel mutations.