Lipid storage myopathy.
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.
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo, 187-8502, Japan.
Wen-Chen
WC
Liang
Ichizo
I
Nishino
D042964:Acyl-CoA Dehydrogenase / Q000172:deficiency / Q000235:genetics; D002331:Carnitine / Q000172:deficiency / Q000235:genetics; D003937:Diagnosis, Differential; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000235:genetics / Q000473:pathology / Q000503:physiopathology / Q000628:therapy; D050356:Lipid Metabolism; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics / Q000473:pathology / Q000503:physiopathology / Q000628:therapy; D018482:Muscle, Skeletal / Q000473:pathology* / Q000503:physiopathology; D009135:Muscular Diseases / Q000235:genetics / Q000473:pathology / Q000503:physiopathology / Q000628:therapy; D012871:Skin Diseases / Q000201:enzymology / Q000235:genetics / Q000473:pathology / Q000503:physiopathology
D042964:Acyl-CoA Dehydrogenase; D002331:Carnitine