Dihydropyrimidinuria
MONDO:0009111Dihydropyrimidinase (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.
Follow this condition — get notified about new trialsBroader categories
Disease
(680)
Metabolic disease
(233)
Hereditary disease
(176)
Inborn errors of metabolism
(45)
Human disease
(14)
Disease of genetic or genomic mechanism
(2)
Inborn disorder of purine or pyrimidine metabolism
(1)
Disease by developmental or physiological process
(0)
Disease by etiologic mechanism
(0)
Inborn disorder of pyrimidine metabolism
(0)