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在怀孕期间治疗多重乙-CoA脱酶缺乏症 (MADD)

Matthew A Shear^1,2, Allie LaTray², Irene J Chang²

¹Division of Maternal-Fetal Medicine and Reproductive Genetics, Department of Obstetrics, Gynecology, & Reproductive Sciences, University of California, 490 Illinois Street, Box 0132, San Francisco, CA 94143, USA.

|July 25, 2025

概括

在怀孕期间治疗多重乙-CoA脱酶缺乏症 (MADD) 是罕见的. 本案例研究详细介绍了一个患有晚发性MADD的患者的成功孕前,产前,产后和产后护理.

科学领域:

生物化学生物化学
代谢障碍代谢障碍代谢障碍
遗传学是一个遗传学.

背景情况:

多重乙-CoA脱酶缺乏症 (MADD),也称为谷氨酸酸血症/谷氨酸酸尿症II型 (GA II),是一种罕见的先天性错误,影响脂肪酸,氨基酸和胆代谢.
慢性管理通常涉及饮食修改 (脂肪和蛋白质限制) 和避免长期禁食.
由于其罕见,对怀孕期间的MADD管理存在有限的公布数据.

研究的目的:

描述诊断为晚发症或III型MADD的患者怀孕的成功管理.
在整个怀孕连续过程中概述MADD患者的综合护理考虑因素:怀孕前,产前,产后和产后.

主要方法:

一份病例报告,详细说明了患有III型MADD的孕妇患者的临床过程和治疗方法.
整合涉及代谢专家,产科医生和新生儿科医生的多学科护理.
应用已建立的MADD管理原则,适应怀孕的生理需求.

主要成果:

在患有MADD的患者中,成功完成怀孕和分娩.
在管理期间,没有报告主要的代谢失补偿或对母亲/胎儿的不良结果.
在整个怀孕期间应用MADD管理策略的可行性.

结论:

在MADD患者中,怀孕可以通过精心规划和多学科护理成功管理.
特别注意饮食管理,代谢监测和潜在的并发症至关重要.
这个案例为临床医生在怀孕期间管理MADD提供了宝贵的见解.

关键词:

生物化学遗传学生物化学遗传学代谢的先天性错误的代谢.孕产妇和胎儿医学怀孕怀孕怀孕怀孕怀孕

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