beta-ureidopropionase deficiency
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).
MONDO:0019238
inborn disorder of pyrimidine metabolism
is_a
Beta-alanine synthase deficiency
exact
UPB1D
related
beta-ureidopropionase deficiency
exact