L-2-Hydroxyglutaric Aciduria: Report of Two Indian Families

Abstract

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.

Treatment, Therapy and Management of Metabolic Epilepsy: A Systematic Review

“…In most cases, polytherapy with AEDs such as levetiracetam, lamotrigine, valproate, phenytoin, oxycarbamazepine, and clonazepam, were able to completely stop the seizures [ 23 , 24 , 25 , 26 ]. Oral administration of carnitine and riboflavin yielded favourable results as a treatment strategy for patients with an increase excretion of GA [ 26 , 28 , 30 , 53 ]. Mete, Isikay, Sirikci, Ozkur and Bayram [ 26 ] also reported a case of a glutaric aciduria patient receiving oral treatment of riboflavin (200 mg/day) and l -carnitine (100 mg/kg/day) who responded with significant clinical improvement.…”

“…Mete, Isikay, Sirikci, Ozkur and Bayram [ 26 ] also reported a case of a glutaric aciduria patient receiving oral treatment of riboflavin (200 mg/day) and l -carnitine (100 mg/kg/day) who responded with significant clinical improvement. Besides that, the use of flavin adenine dinucleotide (30 mg/day) with levocarnitine chloride was found to result in a 50% reduction in urinary l -2-hydroxyglutaric acid [ 30 ]. However, the clinical association between riboflavin and carnitine treatment and excretion of GA has yet to be sorted [ 53 ].…”