Beta-ureidopropionase deficiency
Beta-ureidopropionase deficiency
Definition
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).
Also known as Beta-alanine synthase deficiency, beta-ureidopropionase deficiency — per MONDO