New insight in lipid storage myopathy.

Jingwen Xu, Bing Wen, Chuanzhu Yan

Journal: Neuromuscular disorders : NMD 2025;51():105367

PMID: 40411946

Full Text on Elsevier Science View on PubMed

Abstract

Lipid storage myopathy (LSM) is a lipid metabolic disorder characterized by the excessive accumulation of lipid droplets within muscle fibers. Classic multiple acyl-CoA dehydrogenase deficiency (MADD), also known as glutaric aciduria type II (GAII), is a clinically heterogeneous group of disorders caused by mutations in the electron transfer flavoprotein (ETF) and ETF-ubiquinone oxidoreductase (ETFQO). Growing evidence suggests that late-onset classic MADD due to ETFQO mutations is a primary cause of LSM. In addition to classic MADD, MADD-like disorders have also been identified as contributing factors to LSM, as supported by numerous studies. This review summarizes recent advances in the clinical, pathological, biochemical, and molecular features, as well as treatment outcomes, of LSM with various etiologies, with a particular focus on the latest findings regarding MADD-like disorders.

Address: Department of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Diseases, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Shandong University, Jinan, Shandong, PR China.; Department of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Diseases, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Shandong University, Jinan, Shandong, PR China; Department of Neurology, Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong University, Qingdao, 266000, PR China; Mitochondrial Medicine Laboratory, Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong University, Qingdao, 266035, Shandong, PR China. Electronic address: [email protected].

DOI: 10.1016/j.nmd.2025.105367

Link outs

Free resources

Medical:

https://medlineplus.gov/lipidmetabolismdisorders.h...

Subscription / membership required

Full Text Sources:

MeSH Terms: Humans, Multiple Acyl Coenzyme A Dehydrogenase Deficiency, Lipid Metabolism, Inborn Errors, Muscular Diseases, Electron-Transferring Flavoproteins, Mutation