Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal).
Comprehensive, easy-to-understand information about this condition
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dihydropyrimidinuria
MONDO:0009111
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