L-2-hydroxyglutaric aciduria
Findings
No curated finding names L-2-hydroxyglutaric aciduria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.
Definition from the Mondo Disease Ontology (MONDO:0009370), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
15 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.
- AtaxiaHPOHP:0001251
- 5 of 5 reported patients
- Intellectual disabilityHPOHP:0001249
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- L-2-hydroxyglutaric aciduriaHPOHP:0040144
- 5 of 5 reported patients
- LeukoencephalopathyHPOHP:0002352
- 5 of 5 reported patients
- SeizureHPOHP:0001250
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Infectious encephalitisHPOHP:0002383
- Very frequent (80% to 99% of cases)
Show the remaining 3
- Neoplasm of the nervous systemHPOHP:0004375
- Frequent (30% to 79% of cases)
- Spastic tetraparesisHPOHP:0001285
- Frequent (30% to 79% of cases)
- AphasiaHPOHP:0002381
- Occasional (5% to 29% of cases)
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.
- L2HGDHHGNC:20499
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: L-2-hydroxyglutaric aciduria
- Also called
- L-2-HGAL-2-hydroxyglutaric acidemia