长链3-羟基酰基辅酶A脱氢酶缺乏症患者的妊娠管理
Management of pregnancy in a patient with long-chain 3-hydroxyacyl CoA dehydrogenase deficiency.
作者信息
Shakerdi Loai A, McNulty Jenny, Gillman Barbara, McCarthy Claire M, Ivory Jessica, Sheerin Alison, O'Byrne James J, Donnelly Jennifer C, Treacy Eileen P
机构信息
National Centre for Inherited Metabolic Disorders Mater Misericordiae University Hospital Dublin Ireland.
National Centre for Inherited Metabolic Disorders Children's Health Ireland (CHI) Dublin Ireland.
出版信息
JIMD Rep. 2022 Apr 12;63(4):265-270. doi: 10.1002/jmd2.12284. eCollection 2022 Jul.
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a rare mitochondrial defect of β-oxidation of long-chain fatty acids. Patients may present with muscle pain, hypotonia, peripheral neuropathy, cardiomyopathy, recurrent rhabdomyolysis and sudden death. Dietary management of LCHADD aims at preventing prolonged fasting and decreasing energy production from long-chain fatty acids compensated by an increase in medium-chain triglyceride fat. Herein, we present medical and dietetic management of a successful pregnancy in a LCHADD female patient and the delivery of a healthy baby boy.
长链3-羟酰基辅酶A脱氢酶缺乏症（LCHADD）是一种罕见的长链脂肪酸β氧化线粒体缺陷。患者可能出现肌肉疼痛、肌张力减退、周围神经病变、心肌病、复发性横纹肌溶解症和猝死。LCHADD的饮食管理旨在防止长期禁食，并通过增加中链甘油三酯脂肪来减少长链脂肪酸产生的能量。在此，我们介绍了一名LCHADD女性患者成功妊娠的医学和饮食管理情况以及一名健康男婴的分娩过程。
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