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L-2-hydroxyglutaric aciduria

What is L-2-hydroxyglutaric aciduria?

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.

Other condition names

  • L-2-HGA
  • L-2-hydroxyglutaric acidemia

Inheritance type

Autosomal recessive

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Childhood
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.