Analysis of treatment regimen in a pregnant patient with ornithine transcarbamylase deficiency

doi:10.5246/jcps.2020.09.062

Journal of Chinese Pharmaceutical Sciences ›› 2020, Vol. 29 ›› Issue (9): 666-670.DOI: 10.5246/jcps.2020.09.062

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Analysis of treatment regimen in a pregnant patient with ornithine transcarbamylase deficiency

Lixia Li¹, Yingxiu Liu², Junming Du^2*

1. Department of Pharmacy, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200092, China
2. Department of Anesthesiology and SICU, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200092, China

Received:2020-04-15 Revised:2020-06-20 Online:2020-09-30 Published:2020-07-19
Contact: Tel.: +86-21-25077825, E-mail: dujunming@xinhuamed.com.cn
Supported by:
Clinical Trial of Xinhua Hospital (Grant No. 15LC11).

Abstract

Abstract:

As a common urea-cycle disorder, ornithine transcarbamylase deficiency (OTCD) disables the conversion of ammonia into non-toxic urea, and its subsequent excretion results in hyperammonemia. We reported a 28-year-old woman who was diagnosedwith OTCD during her first pregnancy. She was treated with arginine, citrulline and sodium benzoate for complications associated with hyperammonemia, and her protein intake was restricted. The patient’s condition was stabilized, and she delivered a baby boy via cesarean section. However, the baby died 2 d later. During her second pregnancy, prenatal screening suggested that the fetus had OTCD, and an induced abortion was performed. During her third pregnancy, fetal OTCD was ruled out, and the patient was treated with oral sodium benzoate. Her blood ammonia level was stabilized, and a baby boy was successfully deliveredvia cesarean section. This case described the treatment process of the pregnant patient with OTCD, and the safety and efficacy of sodium benzoate were evaluated. Collectively, our findings provided the experience and evidence for the drug selection and treatment of these rare diseases.

Key words: Ornithine transcarbamylase deficiency, Pregnancy, Hyperammonemia, Sodium benzoate

CLC Number:

Supporting:

Lixia Li, Yingxiu Liu, Junming Du. Analysis of treatment regimen in a pregnant patient with ornithine transcarbamylase deficiency[J]. Journal of Chinese Pharmaceutical Sciences, 2020, 29(9): 666-670.

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Analysis of treatment regimen in a pregnant patient with ornithine transcarbamylase deficiency

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