Lipid Storage Myopathy
- نوع فایل : کتاب
- زبان : انگلیسی
- مؤلف : Wen-Chen Liang & Ichizo Nishino
- چاپ و سال / کشور: 2010
Description
Lipid storage myopathy (LSM) is pathologically characterized by prominent lipid accumulation in muscle fibers due to lipid dysmetabolism. Although extensive molecular studies have been performed, there are only four types of genetically diagnosable LSMs: primary carnitine deficiency (PCD), multiple acyl-coenzyme A dehydrogenase deficiency (MADD), neutral lipid storage disease with ichthyosis, and neutral lipid storage disease with myopathy. Making an accurate diagnosis, by specific laboratory tests including genetic analyses, is important for LSM as some of the patients are treatable: individuals with PCD show dramatic improvement with high-dose oral L-carnitine supplementation and increasing evidence indicates that MADD due to ETFDH mutations is riboflavin responsive
Curr Neurol Neurosci Rep (2011) 11:97–103 DOI 10.1007/s11910-010-0154-y Published online: 3 November 2010
