carbamoylphosphate synthetase deficiency

Epidemiology

rare

Pathology

• hyperammonemia due to malfunction of the urea cycle

Clinical manifestations

• see hyperammonemia

Laboratory

• plasma ammonia is elevated
• definitive testing: liver biopsy & enzyme analysis

Complications

• untreated carbamoylphosphate synthetase deficiency is fatal

Management

• immediate: see hyperammonemia
• long-term:
  • low-protein diet
  • sodium benzoate & sodium phenylacetate (Ucephan)
• liver transplantation
• donor cell engraftment
• consults
  • pediatric critical care (as needed)
  • medical geneticist
  • dietician

More general terms

• urea cycle disorder

Additional terms

• carbamoyl phosphate synthase-1 (NH3, CPS1)