Search
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
Related
carbamoyl phosphate synthase-1 (NH3, CPS1)
General
urea cycle disorder
References
- Roth KS et al
eMedicine: Carbamoyl Phosphate Synthetase Deficiency
http://emedicine.medscape.com/article/942159-overview