A mild phenotype of dihydropyrimidine dehydrogenase deficiency and developmental retardation associated with a missense mutation affecting cofactor binding.Clin Biochem. 2011 Jun; 44(8-9):722-4.CB
Evaluation of a non-synonymous mutation associated with dihydropyrimidine dehydrogenase (DPD) deficiency.
DESIGN AND METHODS
DPD enzyme analysis, mutation analysis and molecular dynamics simulations based on the 3D-model of DPD.
The substitution Lys63Glu is likely to affect the FAD binding pocket within the DPD protein and contributes to a near-complete DPD deficiency in a patient with developmental retardation.
Like other DPD variants attenuating FAD binding, Lys63Glu should be included in screening for DPD deficiency.