title: Management of ornithine transcarbamylase deficiency in pregnancy.
abstract: Ornithine transcarbamylase (OTC) deficiency is the most common enzymatic deficiency in the urea cycle. In catabolic states, such as the intrapartum and immediate postpartum periods, hyperammonemic comas with permanent neurological damage and death can develop. We report six cases of OTC deficiency during pregnancy managed at our institution and review the literature on OTC deficiency during pregnancy. Using the patient database from our Metabolic Clinic, pregnant OTC deficiency carriers were identified. The antenatal, intrapartum, and postpartum periods were analyzed. Corresponding literature was reviewed and an extensive multidisciplinary management plan developed. All six pregnant women had favorable outcomes. No hyperammonemic episodes occurred, and intensive care unit admissions and hemodialysis were not required. Although risk to women with OTC deficiency during the intra- and postpartum period exists, multidisciplinary management and a coherent plan usually result in successful labor, delivery, and postpartum. A comprehensive plan for patients who develop hyperammonemia is recommended.
authors.affiliation: Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Baylor College of Medicine, Houston, TX 77030, USA.
authors.forename: Hector
authors.initials: H
authors.lastname: Mendez-Figueroa
authors.forename: Kerri
authors.initials: K
authors.lastname: Lamance
authors.forename: V Reid
authors.initials: VR
authors.lastname: Sutton
authors.forename: Kjersti
authors.initials: K
authors.lastname: Aagaard-Tillery
authors.forename: Ignatia
authors.initials: I
authors.lastname: Van den Veyver
mesh_terms: D000293:Adolescent; D000328:Adult; D019468:Disease Management; D005260:Female; D005817:Genetic Counseling; D006579:Heterozygote; D006801:Humans; D022124:Hyperammonemia / Q000628:therapy; D007231:Infant, Newborn; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000235:genetics / Q000628:therapy*; D011247:Pregnancy; D011248:Pregnancy Complications / Q000235:genetics / Q000628:therapy*; D055815:Young Adult