Increased urinary excretion of L-2-hydroxyglutaric acid, found in 8 mentally retarded patients from 5 unrelated families including 3 pairs of siblings seen in various centers in Europe, was reported from University Hospital Amsterdam, the Netherlands. The first symptoms occurred between 1 and 5 years of age and consisted of abnormal gait. Febrile seizures occurred in 7 of 8 patients. Cerebellar dysfunction was the principle neurological abnormality in later childhood and adulthood. MRI revealed subcortical leukoencephalopathy, cerebellar atrophy, and changes in the putamina and dentate nuclei. L-2-hydroxyglutaric acid was also increased in the CSF and plasma. Lysine was increased in CSF and plasma and glutaric acid was increased in the plasma of 2 patients. Loading and dietary studies failed to reveal the origin of the L-2-hydroxyglutaric acid. [1]
COMMENT. Glutaric acidemia, an autosomal recessively inherited disease caused by deficiency of glutary 1-Coenzyme A dehydrogenase, was manifested by acute dystonia in 3 infants reported from the Children’s Hospital of Pittsburgh, PA (See Ped Neurol Briefs Jan 1989). Dystonia was also reported in 3 of the 8 patients with L-2-hydroxyglutaric acidemia.