L-2-hydroxyglutaric aciduria

info · Genetic

An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia).

Signs and symptoms

Seizure
Leukoencephalopathy
Ataxia
Intellectual disability
Hearing impairment
Strabismus
Developmental regression
Cerebellar atrophy
Global brain atrophy
Spastic tetraparesis

Also known as: L-2-HYDROXYGLUTARIC ACIDEMIA