Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

beta-ureidopropionase deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

beta-ureidopropionase deficiency

MONDO:0013164

Also known as:Beta-alanine synthase deficiencyUPB1D

Find Clinical TrialsTrials

Overview

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).

GeneticsAutosomal recessive · UPB1 (chr 22)

Clinical Trials1 registered · 1 recruiting

ResearchLimited published research (3 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Elevated circulating N-carbamyl-beta-aminoisobutyric acid concentration, Elevated urinary ureidopropionic acid level, and Reduced hepatic beta-ureidopropionase activity; and common findings: Global developmental delay. 27 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Abnormal speech pattern, Dystonia, Seizure

Genetic Landscape

UPB1 function has not been fully characterized.

Beta-ureidopropionase deficiency is associated with mutations in the UPB1 gene on chromosome 22.

Diagnosis

Genetic testing for UPB1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 1 common feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

3 publications have been identified in PubMed for beta-ureidopropionase deficiency. Research spans Epidemiology / Natural History (67%) and Case Report / Case Series (33%).

Recent Publications

Ferrera G (2026). [PMID: 42082260](https://pubmed.ncbi.nlm.nih.gov/42082260/). *BMJ Case Rep*. [Case Report / Case Series]
Yu K (2025). [PMID: 40422899](https://pubmed.ncbi.nlm.nih.gov/40422899/). *Metabolites*. [Epidemiology / Natural History]
Xiao Z (2025). [PMID: 39960968](https://pubmed.ncbi.nlm.nih.gov/39960968/). *Medicine*. [Epidemiology / Natural History]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 1:04 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613161

Orphanet

European rare disease database

Orphanet:65287

GARD

Genetic and Rare Diseases Info Center

GARD:16669

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

beta-ureidopropionase deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features