Lipid storage myopathy

Common Name(s)

Lipid storage myopathy

Lipid storage myopathy due to FLAD1 deficiency is an autosomal recessive inborn error of metabolism that includes variable mitochondrial dysfunction. The phenotype is extremely heterogeneous: some patients have a severe disorder with onset in infancy and cardiac and respiratory insufficiency resulting in early death, whereas others have a milder course with onset of muscle weakness in adulthood. Some patients show significant improvement with riboflavin treatment (summary by {3:Olsen et al., 2016}).
 

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Condition Specific Organizations

Following organizations serve the condition "Lipid storage myopathy" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Lipid storage myopathy" returned 14 free, full-text research articles on human participants. First 3 results:

Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement.
 

Author(s): Sara Missaglia, Lorenzo Maggi, Marina Mora, Sara Gibertini, Flavia Blasevich, Piergiuseppe Agostoni, Laura Moro, Denise Cassandrini, Filippo Maria Santorelli, Simonetta Gerevini, Daniela Tavian

Journal: Neuromuscul. Disord.. 2017 May;27(5):481-486.

 

Neutral lipid storage disease with myopathy (NLSDM) presents with skeletal muscle myopathy and severe dilated cardiomyopathy in nearly 40% of cases. NLSDM is caused by mutations in the PNPLA2 gene, which encodes the adipose triglyceride lipase (ATGL). Here we report clinical and genetic ...

Last Updated: 31 Dec 1969

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Skeletal Muscle Magnetic Resonance Imaging of the Lower Limbs in Late-onset Lipid Storage Myopathy with Electron Transfer Flavoprotein Dehydrogenase Gene Mutations.
 

Author(s): Xin-Yi Liu, Ming Jin, Zhi-Qiang Wang, Dan-Ni Wang, Jun-Jie He, Min-Ting Lin, Hong-Xia Fu, Ning Wang

Journal: Chin. Med. J.. 2016 Jun;129(12):1425-31.

 

Lipid storage myopathy (LSM) is a genetically heterogeneous group with variable clinical phenotypes. Late-onset multiple acyl-coenzyme A dehydrogenation deficiency (MADD) is a rather common form of LSM in China. Diagnosis and clinical management of it remain challenging, especially ...

Last Updated: 31 Dec 1969

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Refractory Hyperlactatemia with Organ Insufficiency in Lipid Storage Myopathy.
 

Author(s): Yuanda Xu, Li Zhou, Weibo Liang, Weiqun He, Xiaoqing Liu, Xiuling Liang, Nanshan Zhong, Yimin Li

Journal: Arch Iran Med. 2015 Aug;18(8):545-8.

 

Lipid storage myopathy is a metabolic disorder characterized by abnormal lipid accumulation in muscle fibers and progressive muscle weakness. Here, we report the case of a 17-year-old woman with progressive muscle weakness, refractory hyperlactatemia, and multiple organ insufficiency. ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

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The terms "Lipid storage myopathy" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 18 Dec 2017

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Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy
 

Status: Recruiting

Condition Summary: Metabolism, Inborn Errors; Lipid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency; Glycogenin-1 Deficiency (Glycogen Storage Disease Type XV); Carnitine Palmitoyl Transferase 2 Deficiency; VLCAD Deficiency; Medium-chain Acyl-CoA Dehydrogenase Deficiency; Multiple Acyl-CoA Dehydrogenase Deficiency; Carnitine Transporter Deficiency; Neutral Lipid Storage Disease; Glycogen Storage Disease Type II; Glycogen Storage Disease Type III; Glycogen Storage Disease Type IV; Glycogen Storage Disease Type V; Muscle Phosphofructokinase Deficiency; Phosphoglucomutase 1 Deficiency; Phosphoglycerate Mutase Deficiency; Phosphoglycerate Kinase Deficiency; Phosphorylase Kinase Deficiency; Beta Enolase Deficiency; Lactate Dehydrogenase Deficiency; Glycogen Synthase Deficiency

 

Last Updated: 31 Aug 2017

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