STROKE, HEMIPARESIS AND DEFICIENT MITOCHONDRIAL BETA-OXIDATION

We describe on a 3-year-old child referred for evaluation and therapy of a cerebral vascular accident with residual hemiplegia and partial e pilepsy. Metabolic investigations initially showed normal urinary orga nic acids as well as normal blood and urinary amino acids. Blood carni tine fractions had been pathological and a secondary carnitine deficie ncy was diagnosed and treated by oral L-carnitine supplementation. Dur ing carnitine treatment, abnormal urinary acylcarnitine profiles were noticed with excessive amounts of several carnitine esters including p ropionylcarnitine, butyryl- and/or isobutyryl-carnitine, isovaleryl- a nd/or 2-methylbutyrylcarnitine, hexanoylcarnitine and octanoylcarnitin e. Subsequently, an urinary organic acid profile suggestive of glutari c aciduria type II was recorded during a clinical decompensation crisi s. Morphological and biochemical studies on skeletal muscle and skin f ibroblasts were performed and confirmed the existence of a defect of t he mitochondrial P-oxidation pathways with Lipidic myopathy, reduced p almitate and octanoate oxidation rates in cultured fibroblasts. Glutar ic aciduria type II increases the list of metabolic disorders characte rized by hemiplegia and other sequelae of brain ischaemia such as stro ke-like episode, seizures, aphasia, ataxia and myoclonia, similar to t hose seen in MELAS.