The following information may help to address your question:
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
We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please
contact us.
Warm regards,
GARD Information Specialist
Please see our Disclaimer.
