IEMbase 0173: OGDH-related 2-oxoglutaric aciduria
Scope
| Field | Value |
|---|---|
| IEMbase ID | 173 |
| Nosology | 5.2.13.01 |
| Gene | OGDH |
| External IDs | OMIM:203740; ORPHA:99742 |
| Generated mapping | UNMAPPED; best candidate D-2-Hydroxyglutaric_Aciduria.yaml |
| Candidate DisMech targets | None valid |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as OGDH-related alpha-ketoglutarate dehydrogenase deficiency, with alternate labels 2-oxoglutaric aciduria and Amish lethal microcephaly. Treatability is marked unknown, and there are no treatment rows in the extracted JSON.
The biochemical rows include increased urinary 2-ketoglutaric acid, increased plasma lactate, increased lactate/pyruvate ratio, decreased plasma glucose, decreased plasma and urinary ketones, and variable ASAT/ALAT. Clinical rows include choreoathetosis, sensorineural deafness, depressed nasal bridge, dolichocephaly, dystonia, dystrophic thumbs, epicanthus, failure to thrive, long philtrum, low-set ears, osteodystrophy, pyramidal signs, short nose, axial hypotonia, hypoglycemia, lactic acidosis, liver dysfunction, neurologic symptoms, and psychomotor delay.
DisMech phenotype coverage
No valid local DisMech target was found. The generated best candidate,
D-2-Hydroxyglutaric_Aciduria.yaml, is a pathway-neighbor false positive. It
mentions alpha-ketoglutarate as the substrate/product context for D2HGDH and
IDH2 disease, but it does not model OGDH, alpha-ketoglutarate dehydrogenase
complex deficiency, or primary 2-oxoglutaric aciduria.
Concordance and completeness
Judgement: true local gap.
IEMbase points to a distinct Krebs-cycle enzyme deficiency with a recognizable biochemical signal and syndromic neurologic/dysmorphic phenotype. The current D-2-HGA entry should not be reused merely because both disorders involve alpha-ketoglutarate-related metabolites.
Curation actions
- Do not map this record to
D-2-Hydroxyglutaric_Aciduria.yaml. - Add a future OGDH/alpha-ketoglutarate dehydrogenase deficiency entry.
- Expected future coverage: OGDH, impaired 2-oxoglutarate dehydrogenase flux, urinary 2-ketoglutaric acid, lactic acidosis, increased lactate/pyruvate ratio, hypoglycemia with low ketones, liver dysfunction, psychomotor delay, hypotonia, dystonia/choreoathetosis, deafness, and Amish lethal microcephaly dysmorphology if supported.