beta-ureidopropionase deficiency
Findings
No curated finding names beta-ureidopropionase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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).
Definition from the Mondo Disease Ontology (MONDO:0013164), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
28 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Elevated circulating N-carbamyl-beta-aminoisobutyric acid concentrationHPOHP:6000696
- 4 of 4 reported patients
- Elevated urinary ureidopropionic acid levelHPOHP:6000534
- 1 of 1 reported patient
- Reduced hepatic beta-ureidopropionase activityHPOHP:6000082
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Elevated urinary dihydrothymine levelHPOHP:6000119
- Frequent (30% to 79% of cases)
- Elevated urinary dihydrouracil levelHPOHP:6000118
- Frequent (30% to 79% of cases)
- Elevated urinary N-carbamoyl-beta-alanine levelHPOHP:6000279
- Frequent (30% to 79% of cases)
Show the remaining 16
- Cerebral atrophyHPOHP:0002059
- Occasional (5% to 29% of cases)
- Cortical dysplasiaHPOHP:0002539
- Occasional (5% to 29% of cases)
- Delayed myelinationHPOHP:0012448
- Occasional (5% to 29% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Occasional (5% to 29% of cases)
- Growth delayHPOHP:0001510
- Occasional (5% to 29% of cases)
- MicrocephalyHPOHP:0000252
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- UPB1HGNC:16297
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: beta-ureidopropionase deficiency
- Also called
- Beta-alanine synthase deficiency