Abstract
Introduction: Inherited metabolic disorders (IMDs) are in most cases numbered among rare diseases. As the therapy has been improving during the past decades, numbers of pregnant women affected by these disorders are rising. Therefore, awareness of the diseases which may affect the mother or the fetus are becoming crucial. Among these disorders are urea cycle defects, the most common of them being ornithine transcarbamylase (OTC) deficiency. This X-linked IMD is typical by diverse symptoms varying from asymptomatic individuals to severe hyperammonemia leading to coma and death.
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