Carbamyl phosphate synthetase deficiency and postpartum hyperammonemia.
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.
Kotani
Yasushi
Y
Department of Obstetrics and Gynecology, Kinki University School of Medicine, Osaka-sayama, Osaka, Japan. y-kotani@sanfu.med.kindai.ac.jp
Shiota
Mitsuru
M
Umemoto
Masahiko
M
Tsuritani
Mitsuhiro
M
Hoshiai
Hiroshi
H
D000328:Adult; D000641:Ammonia / Q000097:blood; D002222:Carbamoyl-Phosphate Synthase (Ammonia) / Q000172:deficiency*; D005260:Female; D006801:Humans; D022124:Hyperammonemia / Q000097:blood / Q000175:diagnosis / Q000201:enzymology* / Q000628:therapy; D049590:Postpartum Period / Q000097:blood*; D011247:Pregnancy; D006435:Renal Dialysis
D000641:Ammonia; D002222:Carbamoyl-Phosphate Synthase (Ammonia)