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Updated: Oct 2, 2025

Author Spotlight: Studying the Impact of Maternal Dietary Deficiencies on Long-Term Offspring Health Outcomes
03:19

Author Spotlight: Studying the Impact of Maternal Dietary Deficiencies on Long-Term Offspring Health Outcomes

Published on: June 28, 2024

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Effect of Ornithine Transcarbamylase (OTC) Deficiency on Pregnancy and Puerperium

Rastislav Sysák1, Katarína Brennerová2, Romana Krlín3

  • 11st Department of Gynaecology and Obstetrics, Faculty of Medicine, Comenius University in Bratislava, 851 07 Bratislava, Slovakia.

Diagnostics (Basel, Switzerland)
|February 25, 2022
PubMed

Ornithine transcarbamylase (OTC) deficiency is the most common inherited metabolic disorder in urea cycles with an incidence of 1:14,000 live births. Pregnancy, childbirth and the postpartum period are considered challenging for women with this hereditary metabolic disorder, with a risk of hyperammonemia, especially in the first week after delivery. In our article, we discuss severe hepatic failure, a pregnancy complication in an OTC deficient patient that has not previously been published. Firstly, our aim is to highlight the need for a strict adherence to the recommendation of the gradual increase of protein intake during pregnancy and the importance of multidisciplinary monitoring of pregnant patients with OTC deficiency. Secondly, we refer to critical postpartum hyperammonemia in patients with this hereditary metabolic disorder.

Keywords:
hepatic failurehyperammonemiaornithine transcarbamylase deficiency in pregnancypuerperium

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