Carbamyl phosphate synthase deficiency: diagnosed during pregnancy in a 41-year-old.
Carbamyl phosphate synthase deficiency (CPS) is a rare urea cycle defect. We present a case of a 41-year-old woman diagnosed with CPS deficiency during pregnancy. She is the oldest CPS-deficient patient, at diagnosis, reported to date and the first to be diagnosed during pregnancy. This case highlights the need for consideration of inborn errors of metabolism in adults presenting with unusual neurological and psychiatric conditions.
Eather
G
G
Department of Neurology, The Royal Brisbane Hospital, Brisbane, Australia.
Coman
D
D
Lander
C
C
McGill
J
J
D000328:Adult; D001479:Basal Ganglia / Q000473:pathology; D020165:Carbamoyl-Phosphate Synthase I Deficiency Disease / Q000175:diagnosis*; D002531:Cerebellum / Q000473:pathology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D011247:Pregnancy