Dihydropyrimidinuria

Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity.

Also known as: dihydropyrimidinase deficiency, dihydropyrimidinuria, DPYSD, Dph deficiency, Dpys deficiency

1 clinical trial for this condition and its sub-types, 1 tagged with Dihydropyrimidinuria itself.