Lipid storage myopathy

Curr Neurol Neurosci Rep. 2011 Feb;11(1):97-103. doi: 10.1007/s11910-010-0154-y.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Acyl-CoA Dehydrogenase / deficiency
  • Acyl-CoA Dehydrogenase / genetics
  • Carnitine / deficiency
  • Carnitine / genetics
  • Diagnosis, Differential
  • Humans
  • Ichthyosiform Erythroderma, Congenital / genetics
  • Ichthyosiform Erythroderma, Congenital / pathology
  • Ichthyosiform Erythroderma, Congenital / physiopathology
  • Ichthyosiform Erythroderma, Congenital / therapy
  • Lipid Metabolism*
  • Lipid Metabolism, Inborn Errors / genetics
  • Lipid Metabolism, Inborn Errors / pathology
  • Lipid Metabolism, Inborn Errors / physiopathology
  • Lipid Metabolism, Inborn Errors / therapy
  • Muscle, Skeletal / pathology*
  • Muscle, Skeletal / physiopathology
  • Muscular Diseases / genetics
  • Muscular Diseases / pathology
  • Muscular Diseases / physiopathology
  • Muscular Diseases / therapy
  • Skin Diseases / enzymology
  • Skin Diseases / genetics
  • Skin Diseases / pathology
  • Skin Diseases / physiopathology


  • Acyl-CoA Dehydrogenase
  • Carnitine

Supplementary concepts

  • Chanarin-Dorfman Syndrome