L-2-hydroxyglutaric aciduria: report of two Indian families

L-2-Hydroxyglutaric aciduria (L-2-HGA) is a rare type of organic acidemia that has characteristic neurological manifestations including macrocephaly, developmental delay, epilepsy and cerebellar ataxia. Worldwide, few hundred cases of L-2-HGA are reported till date. The authors report the first three cases of L-2-HGA from two Indian families. Pertinent clinical aspects of this rare neurometabolic disorder namely, lack of acute exacerbations, and predisposition to brain tumors, are highlighted. In the present series, all cases had infantile onset of symptoms in the form of global developmental delay, seizures and cerebellar ataxia without extra-pyramidal signs or macrocephaly. One child presented as acute febrile encephalopathy which has not been described as a presenting feature.