Maple syrup urine disease: mechanisms and management.
Maple syrup urine disease: mechanisms and management.
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DOI：
10.2147/tacg.s125962
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发表时间：
2017
期刊：
影响因子：
--
通讯作者：
Atwal PS
中科院分区：
文献类型：
--
作者：
Blackburn PR;Gass JM;Vairo FPE;Farnham KM;Atwal HK;Macklin S;Klee EW;Atwal PS
枫糖尿病（Maple syrup urine disease， MSUD）是一种由支链α-酮酸脱氢酶复合物缺陷引起的先天性代谢错误，导致血浆中支链氨基酸（BCAAs）和尿液中α-酮酸升高，并产生典型疾病标志物异亮氨酸。该疾病的严重程度不同，临床谱相当广泛，有五种已知的临床变异，与基因型没有已知的关联。典型症状出现在新生儿期，伴有发育迟缓、发育不良、进食困难、耳垢和尿液中有枫糖浆气味，如不及时治疗，可导致不可逆的神经系统并发症，包括典型运动、代谢失代偿和死亡。治疗包括饮食限制支链氨基酸和密切的代谢监测。在早期开始治疗的患者中，临床结果通常很好。新生儿MSUD筛查现在在美国很普遍，并被纳入推荐统一筛查小组（RUSP）。我们回顾了这种疾病，包括它的表现，筛选和临床诊断，治疗，以及其他有关方面的护理患者。
Maple syrup urine disease (MSUD) is an inborn error of metabolism caused by defects in the branched-chain α-ketoacid dehydrogenase complex, which results in elevations of the branched-chain amino acids (BCAAs) in plasma, α-ketoacids in urine, and production of the pathognomonic disease marker, alloisoleucine. The disorder varies in severity and the clinical spectrum is quite broad with five recognized clinical variants that have no known association with genotype. The classic presentation occurs in the neonatal period with developmental delay, failure to thrive, feeding difficulties, and maple syrup odor in the cerumen and urine, and can lead to irreversible neurological complications, including stereotypical movements, metabolic decompensation, and death if left untreated. Treatment consists of dietary restriction of BCAAs and close metabolic monitoring. Clinical outcomes are generally good in patients where treatment is initiated early. Newborn screening for MSUD is now commonplace in the United States and is included on the Recommended Uniform Screening Panel (RUSP). We review this disorder including its presentation, screening and clinical diagnosis, treatment, and other relevant aspects pertaining to the care of patients.