Beta-ureidopropionase deficiency

MONDO:0013164

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, BETA-ureidopropionase deficiency, UPB1D

1 clinical trial for this condition and its sub-types, 1 tagged with Beta-ureidopropionase deficiency itself.

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Where it sits in the disease tree

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Part of

↑ Inborn disorder of pyrimidine metabolism (11)

Including sub-types (1) Tagged with Beta-ureidopropionase deficiency (1)

Trials to join now! 1

Scientists launch major study to unravel mysterious metabolism disorders

Knowledge-focused Recruiting now

This study aims to learn more about rare disorders that affect how the body processes chemicals called pyrimidines and purines. These disorders can cause problems in the brain, blood, kidneys, and immune system, ranging from mild to life-threatening. Researchers will compare test…

Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused

Last updated Aug 21, 2026 00:00 UTC

Beta-ureidopropionase deficiency

Where it sits in the disease tree

Scientists launch major study to unravel mysterious metabolism disorders