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.

Angelini, C., Pennisi, E., Missaglia, S., Tavian, D., Metabolic lipid muscle disorders: biomarkers and treatment, <<THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS>>, 2019; 2019 (12): 1-15. [doi:10.1177/1756286419843359] [http://hdl.handle.net/10807/148001]

Metabolic lipid muscle disorders: biomarkers and treatment

Missaglia S
Penultimo
Writing – Review & Editing
;
Tavian D
Ultimo
Writing – Original Draft Preparation
2019

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.
Inglese
Angelini, C., Pennisi, E., Missaglia, S., Tavian, D., Metabolic lipid muscle disorders: biomarkers and treatment, <>, 2019; 2019 (12): 1-15. [doi:10.1177/1756286419843359] [http://hdl.handle.net/10807/148001]
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/10807/148001
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