D-2-hydroxyglutaric aciduria
Findings
No curated finding names D-2-hydroxyglutaric aciduria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.
Definition from the Mondo Disease Ontology (MONDO:0010924), read 2026-09-29. CC BY 4.0.
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- D-2-hydroxyglutaric acidemiaHPOHP:0040146
- Very frequent (80% to 99% of cases)
- D-2-hydroxyglutaric aciduriaHPOHP:0012321
- Very frequent (80% to 99% of cases)
- Elevated CSF D-2-hydroxyglutaric acid concentrationHPOHP:6000246
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- CardiomyopathyHPOHP:0001638
- Occasional (5% to 29% of cases)
- Cerebral visual impairmentHPOHP:0100704
- Occasional (5% to 29% of cases)
- Delayed myelinationHPOHP:0012448
- Occasional (5% to 29% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Occasional (5% to 29% of cases)
- EncephalopathyHPOHP:0001298
- Occasional (5% to 29% of cases)
- StridorHPOHP:0010307
- Occasional (5% to 29% of cases)
Show the remaining 1
- VentriculomegalyHPOHP:0002119
- Occasional (5% to 29% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of
- Narrower terms (2)
Other names
3 names
Resolves to: D-2-hydroxyglutaric aciduria
- Also called
- D-2-HGAD-2-hydroxyglutaric acidemiaD-2-hydroxyglutaric aciduria type 1