中风与神经疾病杂志2025，Vol.42Issue(5)：419-426,8.DOI:10.19845/j.cnki.zfysjjbzz.2025.0080
脂质沉积性肌病诊治进展
Research advances in the diagnosis and treatment of lipid storage myopathy
摘要
Abstract
Lipid storage myopathy(LSM)is a lipid metabolic disorder characterized by excessive lipid droplet accu-mulation in muscle fibers.Classic multiple Acyl-CoA dehydrogenase deficiency(MADD),also known as glutaric aciduria type Ⅱ,is a disease with various clinical manifestations caused by mutations in electron transfer flavoprotein(ETF)and ETF-ubiquinone oxidoreductase.In recent years,a large amount of evidence has shown that classic late-onset MADD caused by mutations in the electron transfer flavoprotein dehydrogenase gene is the main cause of LSM.Besides classic MADD,many other diseases with similar changes in blood acylcarnitines and urinary organic acids can also cause LSM,and such diseases are call MADD-like disorders or MADD spectrum.This article reviews the clinical,pathological,bio-chemical,and molecular features of LSM with various etiologies and the latest advances in treatment,with a focus on the latest findings associated with MADD spectrum.关键词
脂质沉积性肌病/多酰基辅酶A脱氢酶缺陷/MADD谱系病/ETFDH基因突变/核黄素Key words
Lipid storage myopathy/Multiple acyl-CoA dehydrogenase deficiency/MADD-like disorders/ETFDH gene mutation/Riboflavin分类
临床医学引用本文复制引用
温冰,焉传祝..脂质沉积性肌病诊治进展[J].中风与神经疾病杂志,2025,42(5):419-426,8.基金项目
国家自然科学基金(82471428) （82471428）
山东省自然科学基金项目(ZR2023MH229) （ZR2023MH229）
