L-2-hydroxyglutaric aciduria: two Japanese adult cases in one family

We report two adult Japanese sisters with L-2-hydroxyglutaric aciduria (aci demia), both of whom were much older (aged 57, 47 years old) than previousl y reported patients (from neonate to 44 years old), and who presented with differing severity Magnetic resonance imaging revealed typical subcortical white matter lesions in both cases and showed brainstem atrophy and thickne ss of the calvarium in the elder sister. L-2-Hydroxyglutaric acid levels we re increased in urine, plasma, and cerebrospinal fluid. These cases suggest that organic acid analysis is necessary even in elderly patients who seem to have neurodegenerative disorders.