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Start free with Eleplan2-hydroxyglutaric aciduria
ORPHA:19Clinical group
Also called 2-hydroxyglutaric acidemia
What it is
2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine.
Key facts
- Age of onset
- Childhood
- Inheritance
- Autosomal dominant, Autosomal recessive
- Classified as
- Clinical group
Genes reported in subtypes
Orphanet records these genes on 3 more specific entries under this disorder, not on this entry itself:
A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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