PDF(Sci-hub)
Abstract：
Maple Syrup Urine Disease (MSUD) is a rare inherited disorder of branched chain amino acid metabolism characterized by cerebral edema and death in uncorrected metabolic crisis. It is conventionally treated with intensive nutritional therapy to prevent and correct metabolic crisis. This paper reports the use of growth hormone as a pharmacologic rescue agent in the case of an 11-year-old male with MSUD and metabolic crisis refractory to standard interventions. The initiation of short courses of growth hormone correlated with corrected mental status, resolution of metabolic acidosis, and improvement in plasma leucine levels on two occasions during an admission to the pediatric intensive care unit. This is the first known case report of the use of growth hormone in MSUD since contemporary dietary management became available. The discussion includes a literature review of the use of growth hormone in inherited diseases of amino acid metabolism and a brief discussion of protein anabolic pharmacotherapeutic agents shown to improve net protein balance in pediatric burn patients. We propose that growth hormone and other protein anabolic agents may be valuable adjuvants to standard therapy in children with inherited metabolic disease.
摘要：
枫糖浆尿病（MSUD）是一种罕见的支链氨基酸代谢遗传性疾病，其特征是脑水肿和未纠正的代谢危象中的死亡。通常用强化营养疗法治疗以预防和纠正代谢危机。本文报道了在11岁男性患有MSUD和标准干预措施难以抵抗的代谢危机的情况下，使用生长激素作为药物救援剂。短期生长激素的开始与矫正的精神状态相关，代谢性酸中毒的解决，在儿科重症监护病房住院期间，血浆亮氨酸水平有两次改善。这是自当代饮食管理可用以来，在MSUD中使用生长激素的第一个已知病例报告。讨论包括有关生长激素在氨基酸代谢遗传性疾病中的使用的文献综述，以及对显示可改善小儿烧伤患者净蛋白质平衡的蛋白质合成代谢药物的简要讨论。我们建议生长激素和其他蛋白质合成代谢药物可能是遗传代谢疾病儿童标准治疗的有价值的佐剂。
