1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-6-68-b 10.15844/pedneurbriefs-6-9-5 Metabolic Disorders Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Hydroxyglutaric Acidemia http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * Division of Neurology, Children's Memorial Hospital, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 09 1992 01 07 2016 6 9 68 69 Copyright: © 1992 The Author(s) 1992 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease

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.

 L-2-Hydroxyglutaric Acid Cerebellar Dysfunction Acute Dystonia

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.

 Barth PG Hoffmann GF Jaeken J Lehnert W Hanefeld F van Gennip AH L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease Ann Neurol 1992 Jul 32 1 66 71 10.1002/ana.410320111 1642474