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Postpartum Coma and Death due to Carbamoyl-Phosphate Synthetase I Deficiency

Lee-Jun C. Wong, PhD; William J. Craigen, PhD; and William E. O'Brien, PhD
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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.

Copyright ©2004 by the American College of Physicians

Ann Intern Med. 1994;120(3):216-217. doi:10.7326/0003-4819-120-3-199402010-00007
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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.

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Figure 1.
Western blot analysis of carbamoyl-phosphate synthetase I in liver extracts from a normal person and from the patient.Panel APanel BPanel C

Lanes contain 2 mg of liver protein from a normal person (N) and the patient (P). Lanes contain 0.04 mg of liver protein from a normal (N) person and 2 mg of liver protein from the patient (P). Same as panel B, except that electrophoresis was done for 1.3 hours instead of 0.75 hours. Arrows indicate the position of migration of the normal carbamoyl-phosphate synthetase I protein.

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