A SUCCESSFULLY TREATED ADULT PATIENT WITH l-2-HYDROXYGLUTARIC ACIDURIA

Abstract

l-2-Hydroxyglutaric aciduria (L-2-HGA) is a rare inherited neurometabolic disorder.1 The disease is characterized clinically by cerebellar ataxia, intellectual decline, leukoencephalopathy, and elevation of l-2-hydroxyglutaric acid (L-2-HG) and lysine in plasma and CSF.2 The metabolic pathway of L-2-HG in humans is poorly characterized, and there is no effective treatment for L-2-HGA. We report an adult case of L-2-HGA that was successfully treated with flavin adenine dinucleotide sodium (FAD) and levocarnitine chloride. ### Case report. The patient had been born after an uncomplicated full-term pregnancy and delivery. Her parents were healthy and not consanguineous. She was not developmentally delayed during her first decade. Mild intellectual delay was noticed in her elementary school age, but she graduated from high school. She developed action tremor of both hands and unstable gait at age 41. On admission to our hospital at age 43, she presented with no dysmorphism, macrocephaly, or organomegaly. Full-scale IQ was 47 on the Wechsler Adult Intelligence Scale–Revised. She had no weakness, but mild spasticity in the limbs. Deep tendon reflexes were generally brisk and no pathologic reflexes were elicited. She presented with mild dystonia in the lower limbs, and marked dystonia in the neck and left upper limbs when standing and walking. Her gait was slightly unsteady. She had action tremor of both …