哈佛病例报告：枫糖尿症女性妊娠、分娩、哺乳期间的管理

　　枫糖尿症（MSUD）是一种包括亮氨酸、异亮氨基酸以及缬氨酸在内的支链氨基酸代谢障碍的遗传性疾病。血清亮氨酸急性升高的并发症包括酮症酸中毒和发生脑水肿的风险，这将是致命的。MSUD患者在一生中均有发生代谢危象的风险，特别是在生理应激的情况下。我们在这里描述了一例女性MSUD患者在妊娠、分娩、产后以及哺乳期的成功治疗，主要包括利用改进的肠外营养进行营养疗法。

JPEN J Parenter Enteral Nutr. 2015;39(7):875-9.

Management of a Woman With Maple Syrup Urine Disease During Pregnancy, Delivery, and Lactation.

Wessel AE, Mogensen KM, Rohr F, Erick M, Neilan EG, Chopra S, Levy HL, Gray KJ, Wilkins-Haug L, Berry GT.

Boston Children's Hospital, Boston, Massachusetts.

Brigham and Women's Hospital, Boston, Massachusetts.

Harvard Medical School, Boston, Massachusetts.

Maple syrup urine disease (MSUD) is an inherited disorder of metabolism of the branched-chain amino acids leucine, isoleucine, and valine. Complications of acute elevation in plasma leucine include ketoacidosis and risk of cerebral edema, which can be fatal. Individuals with MSUD are at risk of metabolic crisis throughout life, especially at times of physiological stress. We present a case of successful management of a woman with MSUD through pregnancy, delivery, postpartum, and lactation, including nutrition therapy using modified parenteral nutrition.

KEYWORDS: MSUD; lactation; maple syrup urine disease; parenteral nutrition; pregnancy

PMID: 24618664

DOI: 10.1177/0148607114526451