Meyahealth
HomeGeneticsConditionNeutral lipid storage disease with myopathy
Back to Condition
Neutral lipid storage disease with myopathy
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Neutral lipid storage disease with myopathy

Neutral lipid storage disease with myopathy is a condition characterized by abnormal fat storage in organs and tissues throughout the body, leading to muscle weakness and potentially affecting the liver, heart, pancreas, thyroid, and causing type 2 diabetes.

Overview

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 (the most common form of diabetes). Signs and symptoms of neutral lipid storage disease with myopathy vary greatly among affected individuals.

Frequency

Neutral lipid storage disease with myopathy is a rare condition; its incidence is unknown.

Causes & Risk Factors

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.

Associated Gene

  • PNPLA2

Inheritance

This condition is inherited in an autosomal recessive inheritance 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.

Other Names

  • Neutral lipid storage disease without ichthyosis
  • NLSDM

MEDICAL ENCYCLOPEDIA

  • Genetics
  • Hypothyroidism
  • Type 2 Diabetes

Understanding Genetics

  • What is the prognosis of a genetic condition?
  • How can gene variants affect health and development?
  • What does it mean if a disorder seems to run in my family?
  • What are the different ways a genetic condition can be inherited?
  • How are genetic conditions treated or managed?

Frequently Asked Questions

Currently, no specific drug targets ATGL deficiency directly. However, some clinicians use statins or fibrates to manage dyslipidemia, and omega‑3 supplements may help reduce triglyceride levels. In research settings, enzyme replacement or gene therapy trials are being explored, but these are not yet widely available.
Regular cardiac evaluations (echocardiogram or ECG) every 6–12 months, liver function tests and imaging annually, and fasting glucose or HbA1c checks every 3–6 months are recommended. Discuss a personalized plan with your primary care provider or a metabolic specialist.===
definitive diagnosis usually starts with a muscle biopsy that shows vacuoles filled with lipid droplets. This is often followed by genetic testing for PNPLA2 mutations. Blood tests measuring creatine kinase, liver enzymes, and lipid panels can support the diagnosis, but the genetic test is the gold standard.
im for a balanced diet low in saturated fats and refined sugars, and include omega‑3 fatty acids, which may help improve lipid metabolism. Regular, moderate aerobic exercise (like walking or cycling) and resistance training can enhance muscle lipid oxidation. Always consult a dietitian or physical therapist before starting a new program.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

Meyahealth

Ⓒ 2026. All rights reserved by MEYA

About UsTerms & PolicyFAQ