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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.