Two pregnancies of an ornithine carbamoyltransferase deficiency disease carrier and review of the literature

Abstract 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 with OTCD can certainly plan a pregnancy, but they need a careful management during delivery and particularly during the immediate postpartum period. If possible, a multidisciplinary team of physicians, dietitians, obstetrician-gynecologist, neonatologists, pharmacists, etc. with expertise in this field should participate in the care of women with OTCD and their children during this period and in their adult life.

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Bibliographic Details
Main Authors: Arhip,Loredana, Agreda,Javier, Serrano-Moreno,Clara, Motilla,Marta, Carrascal,M.ª Luisa, Bielza,Atocha, Velasco,Cristina, Camblor,Miguel, Bretón,Irene, Cuerda,Cristina
Format: Digital revista
Language:English
Published: Grupo Arán 2024
Online Access:https://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S0212-16112024000300025
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