摘要
遗传代谢病(IEM)是一组由于氨基酸、有机酸、脂肪酸、碳水化合物等生化代谢及线粒体能量代谢过程中的酶、受体、辅助因子或转运蛋白缺陷导致的单基因遗传病。IEM急性代谢紊乱发作可导致较高的致死率和致残率,提高急性期营养管理对改善IEM的预后意义重大。文章基于国内外IEM的指南和专家共识,结合临床实践经验,介绍常见IEM急性期儿童营养管理的原则和方案,旨在提高IEM急性期的营养管理水平和预后。
Inborn errors of metabolism(IEMs)are a group of monogenic diseases caused by defects in enzyme,receptor,cofactor or transporter during biochemical metabolism of amino acids,carbohydrates,organic acids,fatty acids and mitochondrial energy metabolism.The metabolic emergencies due to disorders in IEM leads to high mortality and disability rates in children.Improving nutrition management in acute illness is of great significance to the prognosis of IEM.Based on the latest guidelines and expert consensus of IEM at home and abroad,combined with clinical practice,we introduced the principles and protocols of nutrition management in the acute illness of IEM,which aims to improve the nutrition management and long-term prognosis of IEM.
作者
邱文娟
杜陶子
夏瑜
QIU Wenjuan;DU Taozi;XIA Yu(Department of Endocrinology and Genetic Metabolism,Xinhua Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200092,China)
出处
《临床儿科杂志》
CAS
CSCD
北大核心
2023年第6期401-405,共5页
Journal of Clinical Pediatrics
关键词
遗传代谢病
急性代谢紊乱
营养管理
inborn errors of metabolism
acute metabolic disorders
nutritional management
