Dihydropyrimidinase (DPYS)

Dihydropyrimidinase catalyzes the conversion of 5,6-dihydrouracil to 3-ureidopropionate in pyrimidine metabolism. Dihydropyrimidinase is expressed at a high level in liver and kidney as a major 2.5-kb transcript and a minor 3.8-kb transcript. Defects in the DPYS gene are linked to dihydropyrimidinuria.Various neurologic abnormalities have been described in this group of patients. The further catabolism of the dihydropyrimidines is effected by dihydropyrimidinase. Duran et al. reported a male Turkish baby, the fifth child of a consanguineous couple, who was thought to have dihydropyrimidinase deficiency. The infant was well until the age of 8 weeks when he developed feeding problems following the introduction of fruits to his formula milk.