Beta-ureidopropionase deficiency
Synonyms: Beta-alanine synthase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
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).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Beta-ureidopropionase deficiency | Beta-alanine synthase deficiency |
| fr | Déficit en bêta-uréidopropionase | Déficit en bêta-alanine synthase |
| de | Beta-Ureidopropionase-Mangel | Beta-Alanin-Synthase-Mangel |
| es | Deficiencia de beta-ureidopropionasa | Deficiencia de beta-alanina sintasa · Deficiencia de beta-alanina sintetasa |
| it | Deficit di beta-ureidopropionasi | Deficit di beta-alanina sintasi |
| nl | Deficiëntie van bèta-ureïdopropionase | Deficiëntie van bèta-alaninesynthase |
| pt | Deficiência de beta-ureidopropionase | Deficiência de beta-alanina sintase |
| pl | Niedobór beta-ureidopropionazy | Niedobór syntazy beta-alaninowej |
| cs | Deficit beta-ureidopropionázy | Deficit beta-alanin syntázy |
| uk | Дефіцит бета-уреїдопропіонази | Дефіцит бета-аланінсинтетази |
| zh | β-脲基丙酸酶缺乏症 | β-丙氨酸合酶缺乏症 |
| tr | Beta-üreidopropionaz eksikliği | Beta-alanin sentaz eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613161 | E | validated | |
| ICD-10 | E79.8 | NTBT | attributed | validated |
| ICD-11 | 5C55.1 | NTBT | index | validated |
| MONDO | 0013164 | E | validated | |
| MeSH | C563210 | E | validated | |
| UMLS | C1291512 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:79193Disorder of pyrimidine metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:225707Metabolic neurotransmission anomaly with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| UPB1 | Disease-causing germline mutation(s) in | Assessed | HGNC:16297 | ENSG00000100024 | 606673 | 22q11.23 | beta-ureidopropionase 1 | 15385443[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 17964839[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17964839[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
16 annotations · validated 2025-07-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:6000279 | Elevated urinary N-carbamoyl-beta-alanine level | |
| HP:6000623 | Elevated urinary N-carbamyl-beta-aminoisobutyric acid level | |
| HP:6000119 | Elevated urinary dihydrothymine level | |
| HP:6000118 | Elevated urinary dihydrouracil level | |
| HP:0001263 | Global developmental delay | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:6000082 | Reduced hepatic beta-ureidopropionase activity | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0000717 | Autism | |
| HP:0002059 | Cerebral atrophy | |
| HP:0002539 | Cortical dysplasia | |
| HP:0012448 | Delayed myelination | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001510 | Growth delay | |
| HP:0000252 | Microcephaly | |
Annotation source: 30608453[PMID]_22525402[PMID]_25638458[PMID]_24526388[PMID]_18853477[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/65287
- This record as JSON: /data/d/65287.json