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Postpartum Coma and Death due to Carbamoyl-Phosphate Synthetase I Deficiency
- From Baylor College of Medicine, One Baylor Plaza, Houston, Texas. Requests for Reprints: William E. O'Brien, PhD, Institute for Molecular Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030. Acknowledgments: The authors thank Drs. Hope Northrup, Cheryl Robinson, and Harold Gottlieb for clinical assistance; and Arthur Warman, Jackie Heidorn, and Linda Langley in the Biochemical Genetics Laboratory at Baylor College of Medicine for technical assistance.
Urea is formed through the action of five enzymes that compose the urea cycle. Inherited deficiencies of each of the five enzymes have been described and reviewed [1]. The classic presentation of patients with a deficiency of any of these enzymes, with the exception of arginase, occurs during the neonatal period and is due to acute hyperammonemia. Rare cases have been reported for each of these enzyme deficiencies in which the age of onset is after the neonatal period. We describe a patient presenting with coma after childbirth who had a deficiency of carbamoyl-phosphate synthetase I.
Case Patient
A 26-year-old white woman was admitted to the hospital in active labor. Her mother had had an uncomplicated full-term pregnancy and delivery. Her childhood was unremarkable, but she had a self-selected diet with little or no meat or dairy products, and she occasionally complained of spells of confusion and disorientation and was diagnosed with complex partial seizures. She completed college and worked as a teacher. Her only pregnancy was uncomplicated, with prenatal care throughout. The patient had a brief episode of disorientation 1 day before delivery. Ten hours after delivery, she became disoriented and agitated; …
