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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.
ORPHA:19Classification level: Group of disorders
- 2-hydroxyglutaric acidemia
- Prevalence: Unknown
- Inheritance: Autosomal dominant or Autosomal recessive
- Age of onset: Childhood
- ICD-10: E72.8
- OMIM: -
- UMLS: C2746066
- MeSH: -
- GARD: 10761
- MedDRA: -
The exact prevalence and incidence of the disorders are not known, but fewer than 300 patients have been reported to date.
There are two enantiomeric forms of 2-hydroxyglutaric acid, i.e. D-2-hydroxyglutaric acid and L-2-hydroxyglutaric acid. L-2-hydroxyglutaric aciduria (see this term) is characterized by psychomotor retardation, cerebellar ataxia and epilepsy, and D-2-hydroxyglutaric aciduria (see this term) is characterized by variable metabolic, neurological and dysmorphic manifestations.
Mutations in the L2HGDH gene (14q22.1) gene have been implicated in L-2-hydroxyglutaric aciduria, and mutations in the D2HGDH (2q37.3) and IDH2 (15q26.1) genes in D-2-hydroxyglutaric aciduria.
L-2-hydroxyglutaric aciduria and D-2-hydroxyglutaric aciduria caused by mutations in the L2HGDH and D2HGDH genes, respectively, follow an autosomal recessive pattern of inheritance. In contrast, D-2-hydroxyglutaric aciduria caused by a specific heterozygous gain-of-function mutation in the IDH2 gene, is an autosomal dominant trait and is usually caused by de novo mutations.
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