Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Baylor College of Medicine, Houston, TX 77030, USA.
Am J Perinatol. 2010 Nov;27(10):775-84. doi: 10.1055/s-0030-1254240. Epub 2010 May 10.
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.
鸟氨酸氨甲酰基转移酶（OTC）缺乏症是尿素循环中最常见的酶缺乏症。在分解代谢状态下，如分娩期间和产后立即，可能会出现高氨血症昏迷，导致永久性神经损伤和死亡。我们报告了在我们机构治疗的 6 例妊娠期间的 OTC 缺乏症病例，并回顾了妊娠期间 OTC 缺乏症的文献。使用我们代谢诊所的患者数据库，确定了妊娠 OTC 缺乏症携带者。分析了产前、分娩期和产后期间的情况。回顾了相应的文献，并制定了广泛的多学科管理计划。所有 6 名孕妇的结局均良好。没有发生高氨血症发作，也不需要重症监护病房入院和血液透析。尽管 OTC 缺乏症的女性在围产期存在风险，但多学科管理和一致的计划通常会导致成功分娩、分娩和产后。建议为发生高氨血症的患者制定综合计划。
