Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency

  title={Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency},
  author={A. B. P. van Kuilenburg and Peter Vreken and Nico G. G. M. Abeling and Henk Bakker and Rutger J Meinsma and Henk van Lenthe and Ronney A. De Abreu and Jan A M Smeitink and H{\"u}lya Kayserili and Memnune Y{\"u}ksel Apak and Ernst Christensen and Irma Holopainen and Kari Pulkki and Daniele Riva and G. Botteon and Elisabeth Holme and M{\'a}r H. Tulinius and Wim J. Kleijer and Frits A. Beemer and M L Dur{\'a}n and Klary E. Niezen-Koning and Gerrit P. A. Smit and Cornelis Jakobs and Leonard M. E. Smit and Ute Moog and Leo J. M. Spaapen and Albert H. van Gennip},
  journal={Human Genetics},
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 and phenotypic basis for DPD deficiency, we have reviewed 17 families presenting 22 patients with complete deficiency of DPD. In this group of patients, 7 different mutations have been identified, including 2 deletions [295–298delTCAT, 1897delC], 1… CONTINUE READING