Oxoglutaric aciduria
Synonyms: Alpha-ketoglutarate dehydrogenase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare, genetic, inborn error of metabolism disorder characterized by neonatal-onset of developmental delay, hypotonia, hepatomegaly, lactic acidemia, increased creatine kinase levels, elevated alpha-ketoglutaric acid in urine, and a decreased plasma beta-hydroxybutyrate-to-acetoacetate ratio. Pyruvate dehydrogenase deficiency can be associated, leading to hypoglycemia and neurologic anomalies, including seizures.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Oxoglutaric aciduria | Alpha-ketoglutarate dehydrogenase deficiency |
| fr | Acidurie oxoglutarique | Déficit en alpha-cétoglutarate déshydrogénase |
| de | Oxoglutarazidurie | Alpha-Ketoglutarat-Dehydrogenase-Mangel |
| es | Aciduria oxoglutárica | Deficiencia de alfa-cetoglutarato deshidrogenasa |
| it | Aciduria ossoglutarica | Deficit di alfa chetoglutarato deidrogenasi |
| nl | Oxoglutaaracidurie | Alfa-ketoglutaraatdehydrogenasedeficiëntie · 2-ketoglutaarzuurdehydrogenasedeficiëntie |
| pt | Acidúria oxoglutárica | Deficiência de alfa-cetoglutarato desidrogenase |
| pl | Kwasica oksoglutarowa | Niedobór dehydrogenazy alfa-ketoglutarowej |
| cs | 2-oxoglutarová acidurie | Deficit alfa-ketoglutarátdehydrogenázy |
| uk | Оксоглутарова ацидурія | Дефіцит альфа-кетоглутаратдегідрогенази |
| zh | 酮戊二酸尿症 | α酮戊二酸脱氢酶缺乏症 |
| tr | Oksoglutarik asidüri | Alfa-ketoglutarat dehidrojenaz eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 203740 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.1 | NTBT | index | validated |
| MONDO | 0008759 | E | validated | |
| MeSH | C536582 | E | validated | |
| UMLS | C2752074 | E | validated | |
| GARD | 617 | 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 (4):
- ORPHA:225700Mitochondrial disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:225703Mitochondrial disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:254749Tricarboxylic acid cycle disorder
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| OGDH | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:8124 | ENSG00000105953 | 613022 | 7p13 | oxoglutarate dehydrogenase | 36520152[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
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
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012401 | Abnormal urine alpha-ketoglutarate concentration | |
| HP:0000816 | Abnormality of Krebs cycle metabolism | |
| HP:0001251 | Ataxia | |
| HP:0001263 | Global developmental delay | |
| HP:0001276 | Hypertonia | |
| HP:0004322 | Short stature | |
| HP:0003202 | Skeletal muscle atrophy | |
| Frequent (79-30%) | ||
| HP:0010286 | Abnormal salivary gland morphology | |
| HP:0100022 | Abnormality of movement | |
| HP:0000238 | Hydrocephalus | |
Run the differential on the 7 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/31
- This record as JSON: /data/d/31.json