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.
MONDO:0019238
inborn disorder of pyrimidine metabolism
is_a
DPYSD
related
dihydropyrimidinase deficiency
exact
dihydropyrimidinuria
exact