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L-2-hydroxyglutaric aciduria

Disease definition

L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.

ORPHA:79314

Classification level: Disorder
  • Synonym(s):
    • L-2-HGA
    • L-2-hydroxyglutaric acidemia
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E72.8
  • OMIM: 236792
  • UMLS: C1855995  C3888081
  • MeSH: -
  • GARD: 10472
  • MedDRA: -
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