Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10129169 | Progress in Lipid Research | 2018 | 61 Pages |
Abstract
Lipid storage myopathies (LSMs) are a heterogeneous group of genetic disorders that present with abnormal lipid storage in multiple body organs, typically muscle. Patients can clinically present with cardiomyopathy, skeletal muscle weakness, myalgia, and extreme fatigue. An early diagnosis is crucial, as some LSMs can be managed by simple nutraceutical supplementation. For example, high dosage l-carnitine is an effective intervention for patients with Primary Carnitine Deficiency (PCD). This review discusses the clinical features and management practices of PCD as well as Neutral Lipid Storage Disease (NLSD) and Multiple Acyl-CoA Dehydrogenase Deficiency (MADD). We provide a detailed summary of current clinical management strategies, highlighting issues of high-risk contraindicated treatments with case study examples not previously reviewed. Additionally, we outline current preclinical studies providing disease mechanistic insight. Lastly, we propose that a number of other conditions involving lipid metabolic dysfunction that are not classified as LSMs may share common features. These include Neurofibromatosis Type 1 (NF1) and autoimmune myopathies, including Polymyositis (PM), Dermatomyositis (DM), and Inclusion Body Myositis (IBM).
Keywords
PCDCOAmGlHDL-CETFETFDHNF1cACTfatty acid binding protein-4Fatty acyl-CoA synthetase↑↓IMCLElectron transfer flavoprotein dehydrogenaseVLDL-CNEFAMADDUDCACPT IHSLCGI-58Co-enzyme Q10SLC22A5CoQ10MCTMCFAFADH2TCAETF-QOflavin adenine dinucleotideCPT IIPNPLA2Neutral lipid storage disease with ichthyosisFATPPPARCD36ABHD5FACSFABP4OCTN2pKaGC-MS/MSMS/MSadenylate cyclaseIBMAtgljuvenile visceral steatosistricarboxylic acidNon-esterified fatty acidMedium chain fatty acidsfatty acid translocaseUrsodeoxycholic acidVHEBezafibrateNeutral lipid storage disease with myopathymedium chain triglyceridesJVscluster of differentiation 36dermatomyositisDietLSMcomparative gene identification-58Tandem mass spectrometryelectron transfer flavoproteinadipose triglyceride lipasehormone sensitive lipaseMonoglyceride lipaseLipidintramyocellular lipidLipid storage myopathyMetabolismInclusion body myositisMyopathyElectron microscopyNADHneurofibromatosis type 1nicotinamide adenine dinucleotidepatatin-like phospholipase domain containing 2Fatty acid transport proteinprotein kinase APolymyositisFatcarnitine palmitoyltransferase IICarnitine palmitoyltransferase IHigh-density lipoprotein-cholesterolPrimary carnitine deficiencyMultiple acyl-CoA dehydrogenase deficiencycoenzyme APeroxisome proliferator-activated receptors
Related Topics
Life Sciences
Agricultural and Biological Sciences
Food Science
Authors
Emily R. Vasiljevski, Matthew A. Summers, David G. Little, Aaron Schindeler,