Research advances in the diagnosis and treatment of lipid storage myopathy
10.19845/j.cnki.zfysjjbzz.2025.0080
- VernacularTitle:脂质沉积性肌病诊治进展
- Author:
Bing WEN
1
;
Chuanzhu YAN
1
,
2
Author Information
1. 山东大学齐鲁医院（青岛）神经内科，山东 青岛 266035
2. 山东省罕见病线粒体医学重点实验室，山东 济南 250012
- Publication Type:Journal Article
- Keywords:
Lipid storage myopathy;
Multiple acyl-CoA dehydrogenase deficiency;
MADD-like disorders;
ETFDH gene mutation;
Riboflavin
- MeSH:
Riboflavin
- From:
Journal of Apoplexy and Nervous Diseases
2025;42(5):419-426
- CountryChina
- Language:Chinese
-
Abstract:
Lipid storage myopathy （LSM） is a lipid metabolic disorder characterized by excessive lipid droplet accumulation 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， biochemical， 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.
- Full text:2025071616083531930脂质沉积性肌病诊治进展.pdf
