Metabolic lipid muscle disorders: biomarkers and treatment.

Clicks: 299
ID: 57204
2019
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Abstract
Lipid storage myopathies (LSMs) are metabolic disorders of the utilization of fat in muscles due to several different defects. In this review, a molecular update of LSMs is presented and recent attempts of finding treatment options are discussed. The main topics discussed are: primary carnitine deficiency, riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency, neutral lipid storage disorders and carnitine palmitoyl transferase deficiency. The most frequent presentations and genetic abnormalities are summarized. We present their diagnosis utilizing biomedical and morphological biomarkers and possible therapeutic interventions. The treatment of these metabolic disorders is a subject of active translational research but appears, in some cases, still elusive.
Reference Key
angelini2019metabolictherapeutic Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Angelini, Corrado;Pennisi, Elena;Missaglia, Sara;Tavian, Daniela;
Journal therapeutic advances in neurological disorders
Year 2019
DOI
10.1177/1756286419843359
URL
Keywords
carnitine riboflavin cptz nlsd β-oxidation

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