title: Metabolic stroke in carbamyl phosphate synthetase deficiency.
abstract: Stroke-like episodes with hemiparesis have been described in children with different inherited metabolic diseases. We report the novel observation of a severe stroke as the presenting sign in an 18-month-old girl with carbamyl phosphate synthetase (CPS) deficiency. MRI revealed infarction within the territory of the right middle cerebral artery. Localized 1H-NMR spectroscopy showed elevation of glutamine (at 2.0-2.5 and 3.7 ppm) and lactate within the region of infarction. CPS activity in the liver was reduced (2.5 mU/ mg protein, n = 12-35). On a protein-restricted diet including arginine supplementation, the child has developed well with moderate mental retardation: no neurologic relapses have been observed over a period of 4 years. CPS deficiency has to be added to the list of metabolic diseases that may lead to stroke-like episodes. In every case of unclear hemiparesis in childhood, urea cycle defects should be included in the differential diagnosis.
authors.affiliation: Department of Pediatrics, University of Innsbruck, Austria.
authors.forename: W
authors.initials: W
authors.lastname: Sperl
authors.forename: S
authors.initials: S
authors.lastname: Felber
authors.forename: D
authors.initials: D
authors.lastname: Skladal
authors.forename: B
authors.initials: B
authors.lastname: Wermuth
mesh_terms: D000641:Ammonia / Q000097:blood; D001925:Brain Damage, Chronic / Q000209:etiology; D002223:Carbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing) / Q000172:deficiency*; D002561:Cerebrovascular Disorders / Q000201:enzymology / Q000209:etiology* / Q000473:pathology; D005260:Female; D005500:Follow-Up Studies; D005973:Glutamine / Q000032:analysis; D006429:Hemiplegia / Q000201:enzymology / Q000209:etiology* / Q000473:pathology; D006801:Humans; D007223:Infant; D019344:Lactic Acid / Q000032:analysis; D008099:Liver / Q000201:enzymology; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy
chemical_list: D005973:Glutamine; D019344:Lactic Acid; D000641:Ammonia; D002223:Carbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing)