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Neutral lipid storage disease with myopathy

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I have neutral lipid storage disease with myopathy. I would like to learn more about this condition.

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What is neutral lipid storage disease with myopathy?

Neutral lipid storage disease with myopathy is a condition in which fats (lipids) are stored abnormally in organs and tissues throughout the body. The accumulation of fats in muscle tissue leads to muscle weakness (myopathy). This condition is caused by mutations in the PNPLA2 gene. It is inherited in an autosomal recessive pattern.[1] There is currently no treatment to correct the underlying metabolic problem.[2]
Last updated: 5/8/2014

What are the symptoms of neutral lipid storage disease with myopathy?

People with neutral lipid storage disease have muscle weakness (myopathy) due to the accumulation of fats in muscle tissue. Other features may include a fatty liver, a weakened and enlarged heart (cardiomyopathy), inflammation of the pancreas (pancreatitis), reduced thyroid activity (hypothyroidism), and type 2 diabetes. The overall presentation of this condition varies greatly among those who are affected.[1]
Last updated: 5/8/2014

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

How is neutral lipid storage disease with myopathy inherited?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.[1]
Last updated: 5/8/2014

How might neutral lipid storage disease with myopathy be treated?

To date, there is no treatment for the underlying metabolic problem. Current therapies include adhering to strict dietary guidelines and utilizing treatments focused on the associated symptoms. A recent study suggests that people with this condition may benefit from bezafibrate (a medication used to treat high cholesterol) treatment, particularly with respect to lipid accumulation and fat oxidative capacity.[3] Additional studies into this therapy are needed. 
Last updated: 5/8/2014

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  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.
  2. Fischer J, Negre-Salvayre A, Salvayre R. Neutral lipid storage disease. Orphanet. March 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=165. Accessed 5/8/2014.
  3. van de Weijer et al. Effects of bezafibrate treatment in a patient and a carrier with mutations in the PNPLA2 gene, causing neutral lipid storage disease with myopathy. Circ Res. 2013 Mar 1; 112(5):e51-4. http://circres.ahajournals.org/content/112/5/e51.long. Accessed 5/8/2014.