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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Neutral lipid storage disease with myopathy


Other Names for this Disease

  • Neutral lipid storage disease without ichthyosis
  • NLSDM
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Cause

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What causes neutral lipid storage disease with myopathy?

Neutral lipid storage disease with myopathy is caused by mutations in the PNPLA2 gene. This gene provides instructions for making an enzyme called adipose triglyceride lipase (ATGL). The ATGL enzyme plays a role in breaking down fats called triglycerides. Triglycerides are an important source of stored energy in cells. These fats must be broken down into simpler molecules called fatty acids before they can be used for energy.[1]

PNPLA2 gene mutations impair the ATGL enzyme's ability to break down triglycerides, allowing them to accumulate in muscle and tissues throughout the body. This results in the signs and symptoms seen in people with neutral lipid storage disease with myopathy.[1]
Last updated: 5/8/2014

References
  1. Neutral lipid storage disease with myopathy. Genetics Home Reference (GHR). February 2014; http://ghr.nlm.nih.gov/condition/neutral-lipid-storage-disease-with-myopathy. Accessed 5/8/2014.


Other Names for this Disease
  • Neutral lipid storage disease without ichthyosis
  • NLSDM
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.