Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds.

Ann Saudi Med 2014 March-April www.annsaudimed.net 107 L-2-hydroxyglutaric aciduria (OMIM #236792) is a neurometabolic disorder with an autosomal recessive mode of inheritance. Affected individuals have elevated levels of L-2-hydroxyglutaric acid in the urine and other body fluids (including cerebrospinal fluid and plasma).1 The disease manifests during infancy or early childhood, but sometimes it may present in adulthood with milder phenotypes.2 Patients exhibit characteristic clinical features, which include psychoClinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds