Neutral lipid storage disease with myopathy
Other Names for this Disease
- Lipidosis with triglyceride storage disease
- Neutral lipid storage disease
- Neutral lipid storage disease with myopathy without ichthyosis
- Neutral lipid storage disease without ichthyosis
- Neutral lipid storage myopathy
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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. Additional studies into this therapy are needed.
Last updated: 5/8/2014
- 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.
- ClinicalTrials.gov lists trials that are studying or have studied Neutral lipid storage disease with myopathy. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.