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.
Comprehensive, easy-to-understand information about this condition
Checking for content...
hyper-beta-alaninemia
MONDO:0009378
orotic aciduria
MONDO:0009797
hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
MONDO:0009946
dihydropyrimidine dehydrogenase deficiency
MONDO:0010130
mitochondrial DNA depletion syndrome, myopathic form
MONDO:0012301
beta-ureidopropionase deficiency
MONDO:0013164