Literature DB >> 20471629

Carbamyl phosphate synthetase deficiency and postpartum hyperammonemia.

Yasushi Kotani1, Mitsuru Shiota, Masahiko Umemoto, Mitsuhiro Tsuritani, Hiroshi Hoshiai.   

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. Copyright (c) 2010 Mosby, Inc. All rights reserved.

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Year:  2010        PMID： 20471629     DOI： 10.1016/j.ajog.2010.03.032

Source DB:  PubMed          Journal:  Am J Obstet Gynecol        ISSN： 0002-9378            Impact factor:   8.661


  4 in total

1.  A series of pregnancies in women with inherited metabolic disease.

Authors:  Janneke G Langendonk; Jonathan C P Roos; Lindsay Angus; Monique Williams; François P J Karstens; Johannes B C de Klerk; Charlé Maritz; Tawfeg Ben-Omran; Catherine Williamson; Robin H Lachmann; Elaine Murphy
Journal:  J Inherit Metab Dis       Date:  2011-09-15       Impact factor: 4.982

Review 2.  Hyperammonemia and lactic acidosis in adults: Differential diagnoses with a focus on inborn errors of metabolism.

Authors:  Michel Tchan
Journal:  Rev Endocr Metab Disord       Date:  2018-03       Impact factor: 6.514

3.  Hyperammonemia of unknown cause in a young postpartum woman: a case report.

Authors:  Sadaf Hanif; Sher Muhammad Sethi
Journal:  J Med Case Rep       Date:  2022-03-07

4.  Hyperammonemic coma in a post-partum patient with undiagnosed urea cycle defect.

Authors:  Sananta Kumar Dash; Munish Chauhan; Vishakh Varma; Rakesh Sharma; Sudha Kansal; Rajesh Chawla
Journal:  Indian J Crit Care Med       Date:  2013-03
  4 in total

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