3-hydroxyisobutyric aciduria
- Type
- Disease
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare classic organic aciduria characterized by tissue accumulation and elevation of urinary excretion of 3-hydroxyisobutyric acid. The clinical phenotype ranges from recurrent mild episodes of vomiting with normal cognitive development, to massive acidosis, seizures, and failure to thrive with profound intellectual disability and early death. Dysmorphic craniofacial features (such as microcephaly, triangular face, short, sloping forehead, long, prominent philtrum, and micrognathia) and variable cerebral anomalies have also been described.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 3-hydroxyisobutyric aciduria | |
| fr | Acidurie 3-hydroxyisobutyrique | |
| de | 3-Hydroxy-Isobuttersäure-Krankheit | |
| es | Aciduria 3 hidroxi-isobutírica | |
| it | Aciduria 3-idrossi-isobutirrica | |
| nl | 3-hydroxyisoboterzuuracidurie | |
| pt | Acidúria 3-hidroxiisobutírica | |
| pl | Kwasica 3-hydroksyizomasłowa | |
| cs | 3-hydroxyizobutyrátová acidurie | |
| uk | 3-гідроксиізомасляна ацидурія | |
| zh | 3-羟基酸尿症 | |
| tr | 3-hidroksiizobutirik asitüri |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 236795 | E | validated | |
| ICD-10 | E71.1 | NTBT | attributed | validated |
| ICD-11 | 5C50.E0 | NTBT | index | validated |
| MONDO | 0009371 | E | validated | |
| MeSH | C535312 | E | validated | |
| UMLS | C0342737 | E | validated | |
| GARD | 5662 | 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 (2):
- ORPHA:79163Classic organic aciduria
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 | 13 cases | Worldwide | Case(s) | Validated | 16466957[PMID]_19650361[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16466957[PMID]_19650361[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
15 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000044 | Hypogonadotropic hypogonadism | |
| HP:0003128 | Lactic acidosis | |
| Frequent (79-30%) | ||
| HP:0000343 | Long philtrum | |
| HP:0008551 | Microtia | |
| HP:0000325 | Triangular face | |
| Occasional (29-5%) | ||
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0002514 | Cerebral calcification | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0001250 | Seizure | |
| HP:0000340 | Sloping forehead | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 2 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/939
- This record as JSON: /data/d/939.json