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.
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| http://dx.doi.org/10.3390/diagnostics12020415 | DOI Listing |
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Article Synopsis
- Ornithine transcarbamylase (OTC) deficiency is the most common disorder affecting the urea cycle, which can lead to serious health issues like brain damage and even death if untreated.
- The condition is caused by genetic mutations in the OTC gene and has varying symptoms depending on the age of onset and severity.
- The overview also discusses diagnostic testing and provides treatment guidelines, especially for both carrier females and affected male newborns throughout their prenatal, natal, and postpartum phases.
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