Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency.

摘要: Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disease characterised by thymine-uraciluria in homozygous deficient patients and has been associated with a variable clinical phenotype. In order to understand the genetic phenotypic basis for DPD deficiency, we have reviewed 17 families presenting 22 complete of DPD. this group patients, 7 different mutations identified, including 2 deletions [295-298delTCAT, 1897delC], 1 splice-site mutation [IVS14+1G>A)] 4 missense (85T>C, 703C>T, 2658G>A, 2983G>T). Analysis prevalence various among shown that G-->A point invariant splice donor site far most common (52%), whereas other six are less frequently observed. A large variability observed, convulsive disorders, motor retardation mental being abundant manifestations. clear correlation between genotype phenotype not established. An altered beta-alanine, uracil thymine homeostasis might underlie abnormalities encountered deficiency.