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Background: the underlying cause of the deficiency of ornithine carbamoyltransferase (OTCD) is a gene mutation on the X chromosome. In females, the phenotype is highly variable, ranging from asymptomatic to neurologic compromise secondary to hyperammonemia and it can be prompted by numerous triggers, including pregnancy.

Objective: the objective of this article is to report a case of two pregnancies of an OTCD-carrier, and to review the literature describing OTCD and pregnancy, parturition and postpartum.

Methods: an extensive search in PubMed in December 2021 was conducted using different search terms. After screening all abstracts, 23 papers that corresponded to our inclusion criteria were identified.

Results: the article focuses on the management of OTCD during pregnancy, parturition, and the postpartum period in terms of clinical presentation, ammonia levels and treatment.

Conclusions: females …