D,L-2-hydroxyglutaric aciduria
Findings
No curated finding names D,L-2-hydroxyglutaric aciduria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
D,L-2-hydroxyglutaric aciduria is a rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites.
Definition from the Mondo Disease Ontology (MONDO:0014072), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
6 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.
- Global developmental delayHPOHP:0001263
- 11 of 11 reported patients
- HypotoniaHPOHP:0001252
- 10 of 10 reported patients
- L-2-hydroxyglutaric aciduriaHPOHP:0040144
- 12 of 12 reported patients
- SeizureHPOHP:0001250
- 12 of 12 reported patients
- Increased urine succinate levelHPOHP:0033092
- 7 of 8 reported patients
- Increased urine alpha-ketoglutarate concentrationHPO
Genes
1 gene
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.
- SLC25A1HGNC:10979
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2020
Where it sits
- A kind of
Other names
4 names
Resolves to: D,L-2-hydroxyglutaric aciduria
- Also called
- combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemiacombined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduriaD,L-2-HGAD,L-2-hydroxyglutaric acidemia