Hyper-beta-alaninemia
historical
Synonyms: Hyperalaninemia
- Type
- Disease
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- historical
A rare, genetic disorder of pyrimidine metabolism characterized by increased serum beta-alanine levels and severe phenotype including hypotonia, malaise, seizures, respiratory distress, lethargy and encephalopathy. Urinary excretion of beta-alanine, beta-amino-isobutyric acid, taurine, and gamma-amino-butyric acid is also elevated. There have been no further descriptions in the literature since 1994.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hyper-beta-alaninemia | Hyperalaninemia |
| fr | Hyper-bêta-alaninémie | Hyperalaninémie |
| de | Hyper-beta-Alaninämie | Hyperalaninämie |
| es | Hiper-beta-alaninemia | Hiperalaninemia |
| it | Iper-beta-alaninemia | Iperalaninemia |
| nl | Hyper-bèta-alaninemie | Hyperalaninemie |
| pt | Alaninémia hiper-beta | |
| pl | Hiper-beta-alaninemia | Hiperalaninemia |
| cs | Hyper-beta-alaninémie | Hyperalaninémie |
| uk | Гіпер-бета-аланінемія | Гіпераланінемія |
| zh | 高β-丙氨酸血症 | 高丙氨酸血症 |
| tr | Hiper beta alaninemi | Hiperalaninemi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 237400 | E | validated | |
| ICD-10 | E79.8 | NTBT | attributed | validated |
| ICD-11 | 5C55.1 | NTBT | index | validated |
| MONDO | 0009378 | E | validated | |
| MeSH | C562684 | E | validated | |
| UMLS | C0268630 | E | validated | |
| GARD | 10267 | 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:225689Amino acid or protein metabolism disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:79193Disorder of pyrimidine metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 17926374[PMID]_7936305[PMID]_ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17926374[PMID]_7936305[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/309147
- This record as JSON: /data/d/309147.json