Metabolic stroke in carbamyl phosphate synthetase deficiency

Neuropediatrics. 1997 Aug;28(4):229-34. doi: 10.1055/s-2007-973705.


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.

Publication types

  • Case Reports

MeSH terms

  • Ammonia / blood
  • Brain Damage, Chronic / etiology
  • Carbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing) / deficiency*
  • Cerebrovascular Disorders / enzymology
  • Cerebrovascular Disorders / etiology*
  • Cerebrovascular Disorders / pathology
  • Female
  • Follow-Up Studies
  • Glutamine / analysis
  • Hemiplegia / enzymology
  • Hemiplegia / etiology*
  • Hemiplegia / pathology
  • Humans
  • Infant
  • Lactic Acid / analysis
  • Liver / enzymology
  • Magnetic Resonance Imaging
  • Magnetic Resonance Spectroscopy


  • Glutamine
  • Lactic Acid
  • Ammonia
  • Carbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing)