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Neutral lipid storage disease with myopathy
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Reviewed February 2014
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. People with this condition have muscle weakness (myopathy) due to the accumulation of fats in muscle tissue. Other features of this condition may include a fatty liver, a weakened and enlarged heart (cardiomyopathy), inflammation of the pancreas (pancreatitis), reduced thyroid activity (hypothyroidism), and type 2 diabetes mellitus (the most common form of diabetes). Signs and symptoms of neutral lipid storage disease with myopathy vary greatly among affected individuals.
How common is neutral lipid storage disease with myopathy?
Neutral lipid storage disease with myopathy is a rare condition; its incidence is unknown.
What genes are related to neutral lipid storage disease with myopathy?
Mutations in the PNPLA2 gene cause neutral lipid storage disease with myopathy. The PNPLA2 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.
PNPLA2 gene mutations impair the ATGL enzyme's ability to break down triglycerides. These triglycerides then accumulate in muscle and tissues throughout the body, resulting in the signs and symptoms of neutral lipid storage disease with myopathy.
Read more about the PNPLA2 gene.
How do people inherit neutral lipid storage disease with myopathy?
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.
Where can I find information about diagnosis or management of neutral lipid storage disease with myopathy?
These resources address the diagnosis or management of neutral lipid storage disease with myopathy and may include treatment providers.
General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.
To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.
Where can I find additional information about neutral lipid storage disease with myopathy?
You may find the following resources about neutral lipid storage disease with myopathy helpful. These materials are written for the general public.
You may also be interested in these resources, which are designed for healthcare professionals and researchers.
What other names do people use for neutral lipid storage disease with myopathy?
What if I still have specific questions about neutral lipid storage disease with myopathy?
Where can I find general information about genetic conditions?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding neutral lipid storage disease with myopathy?
acids ; autosomal ; autosomal recessive ; cardiomyopathy ; cell ; diabetes ; diabetes mellitus ; enzyme ; fatty acids ; fatty liver ; gene ; hypothyroidism ; ichthyosis ; incidence ; inflammation ; inherited ; lipase ; lipid ; pancreas ; pancreatitis ; recessive ; thyroid ; tissue ; triglycerides
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (5 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.