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Genetics Home Reference: your guide to understanding genetic conditions
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Neutral lipid storage disease with myopathy

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.

Related Gene(s)

Changes in this gene are associated with neutral lipid storage disease with myopathy.

  • PNPLA2

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.

  • Genetic Testing Registry: Neutral lipid storage disease with myopathy (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1853136)
  • MedlinePlus Encyclopedia: Hypothyroidism (http://www.nlm.nih.gov/medlineplus/ency/article/000353.htm)
  • MedlinePlus Encyclopedia: Type 2 Diabetes (http://www.nlm.nih.gov/medlineplus/ency/article/000313.htm)

You might also find information on the diagnosis or management of neutral lipid storage disease with myopathy in Educational resources (http://www.ghr.nlm.nih.gov/condition/neutral-lipid-storage-disease-with-myopathy/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/neutral-lipid-storage-disease-with-myopathy/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) 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?

  • neutral lipid storage disease without ichthyosis
  • NLSDM

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about neutral lipid storage disease with myopathy?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

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 (http://www.ghr.nlm.nih.gov/glossary).

References

  • Bruno C, Dimauro S. Lipid storage myopathies. Curr Opin Neurol. 2008 Oct;21(5):601-6. doi: 10.1097/WCO.0b013e32830dd5a6. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18769256?dopt=Abstract)
  • Fischer J, Lefèvre C, Morava E, Mussini JM, Laforêt P, Negre-Salvayre A, Lathrop M, Salvayre R. The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. Nat Genet. 2007 Jan;39(1):28-30. Epub 2006 Dec 24. (http://www.ncbi.nlm.nih.gov/pubmed/17187067?dopt=Abstract)
  • Kobayashi K, Inoguchi T, Maeda Y, Nakashima N, Kuwano A, Eto E, Ueno N, Sasaki S, Sawada F, Fujii M, Matoba Y, Sumiyoshi S, Kawate H, Takayanagi R. The lack of the C-terminal domain of adipose triglyceride lipase causes neutral lipid storage disease through impaired interactions with lipid droplets. J Clin Endocrinol Metab. 2008 Jul;93(7):2877-84. doi: 10.1210/jc.2007-2247. Epub 2008 Apr 29. (http://www.ncbi.nlm.nih.gov/pubmed/18445677?dopt=Abstract)
  • Natali A, Gastaldelli A, Camastra S, Baldi S, Quagliarini F, Minicocci I, Bruno C, Pennisi E, Arca M. Metabolic consequences of adipose triglyceride lipase deficiency in humans: an in vivo study in patients with neutral lipid storage disease with myopathy. J Clin Endocrinol Metab. 2013 Sep;98(9):E1540-8. doi: 10.1210/jc.2013-1444. Epub 2013 Jul 3. (http://www.ncbi.nlm.nih.gov/pubmed/23824421?dopt=Abstract)
  • Reilich P, Horvath R, Krause S, Schramm N, Turnbull DM, Trenell M, Hollingsworth KG, Gorman GS, Hans VH, Reimann J, MacMillan A, Turner L, Schollen A, Witte G, Czermin B, Holinski-Feder E, Walter MC, Schoser B, Lochmüller H. The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene. J Neurol. 2011 Nov;258(11):1987-97. doi: 10.1007/s00415-011-6055-4. Epub 2011 May 5. (http://www.ncbi.nlm.nih.gov/pubmed/21544567?dopt=Abstract)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: February 2014
Published: September 15, 2014