Carbamyl phosphate synthetase deficiency and postpartum hyperammonemia.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 20471629.
- Also identified by DOI 10.1016/j.ajog.2010.03.032.
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Abstract
Carbamyl phosphate synthetase (CPS) is an enzyme that converts ammonia to carbamyl phosphate in the urea cycle. CPS deficiency is a genetic disorder that causes hyperammonemia because of enzyme activity deficiency. It is primarily diagnosed in neonates and infants and has a poor prognosis. We report an adult woman with CPS deficiency who developed hyperammonemia postpartum.
Medical subject headings
- Carbamoyl-Phosphate Synthase (Ammonia)
- Hyperammonemia
- Postpartum Period