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Lipid storage myopathy
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Lipid storage myopathies are conditions characterized by the accumulation of lipids in muscle fibers. These conditions often cause fixed muscle weakness, exercise intolerance, cramps, pain, and myoglobinuria. The muscle cramps are sharp contractions that may seem to temporarily lock the muscles. The pain is caused by a process of sudden muscle breakdown that leads to the loss of myoglobin from the muscles into the urine (myoglobinuria).[1]

Myoglobin is a protein in heart and skeletal muscles. When a muscle is exercised, it uses up available oxygen. Myoglobin has oxygen bound to it, thus providing an extra reserve of oxygen so that the muscle can maintain a high level of activity for a longer period of time. When muscle is damaged, the myoglobin is released into the bloodstream. It is filtered out of the bloodstream by the kidneys, and eliminated in urine.[2]

Some examples of lipid storage myopathies include:[3]

Systemic primary carnitine deficiency 
Short-chain acyl-coenzyme A dehydrogenase deficiency 
Medium-chain acyl-coenzyme A dehydrogenase deficiency 
Multiple acyl–CoA dehydrogenase deficiency 
Neutral lipid storage disease with myopathy
Carnitine palmitoyltransferase 2 deficiency
Very long-chain acyl-coenzyme A dehydrogenase deficiency
Medium chain 3-ketoacyl-CoA thiolase deficiency



References
  1. Facts about mitochondrial myopathies. Muscular Dystrophy Association. Available at: http://www.mda.org/publications/mitochondrial_myopathies.html. Accessed April 2, 2009.
  2. Myoglobin - Urine. MedlinePlus. Available at: http://www.nlm.nih.gov/medlineplus/ency/article/003664.htm. Accessed April 2, 2009.
  3. Lipid Disorders. Neuromuscular Disease Center. Available at: http://neuromuscular.wustl.edu/msys/lipid.html. Accessed April 2, 2009.

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