Acrodermatitis enteropathica-like syndrome secondary to isoleucine deficiency during treatment of maple syrup urine disease.
Acrodermatitis enteropathica-like syndrome secondary to isoleucine deficiency during treatment of maple syrup urine disease.
复制标题
枫糖浆尿病治疗期间继发于异亮氨酸缺乏的肢端皮炎肠病样综合征。
DOI：
10.1001/archpedi.1993.02160330044015
复制
发表时间：
1993
期刊：
影响因子：
--
通讯作者：
G. Berry
中科院分区：
文献类型：
--
作者：
G. Giacoia;G. Berry
我们描述了一位枫糖尿症患者，他在服用不含支链氨基酸的配方奶粉时出现肢端皮炎肠病样症候群。医源性异亮氨酸缺乏症的发生，导致蛋白质沉积减少，血浆亮氨酸浓度持续升高。注意到对补充异亮氨酸的快速临床反应。这一观察结果强调了在缺乏氨基酸的情况下使用无氨基酸配方奶粉的风险。
We describe a patient with maple syrup urine disease in whom an acrodermatitis enteropathica-like syndrome developed while he was receiving a branched-chain amino acid-free formula. Iatrogenically induced isoleucine deficiency developed and resulted in a decreased protein accretion and persistent increase in the plasma concentrations of leucine. A rapid clinical response to isoleucine supplementation was noted. This observation underscores the risks of using amino acid-free formulas without adequate supplementation of deficient amino acids.