Beta-ureidopropionase deficiency
MONDO:0013164Beta-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).
Also known as: Beta-alanine synthase deficiency, beta-ureidopropionase deficiency, BETA-ureidopropionase deficiency, UPB1D
1 clinical trial for this condition and its sub-types.
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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)