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


  • Worldwide: <1 in 1,000 000

Age of Onset

  • Childhood
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