Metabolic lipid muscle disorders: biomarkers and treatment

Corrado Angelini; Elena Pennisi; Sara Missaglia; Daniela Tavian

doi:10.1177/1756286419843359

Metabolic lipid muscle disorders: biomarkers and treatment

Corrado Angelini, Elena Pennisi, Sara Missaglia, Daniela Tavian

Istituto di Neuroriabilitazione Motoria San Camillo

Research output: Contribution to journal › Review article

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.

Original language	English
Journal	Therapeutic Advances in Neurological Disorders
Volume	12
DOIs	https://doi.org/10.1177/1756286419843359
Publication status	Published - Apr 1 2019

Keywords

Carnitine
CPTz
NLSD
Riboflavin
β-oxidation

ASJC Scopus subject areas

Pharmacology
Neurology
Clinical Neurology

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10.1177/1756286419843359

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Angelini, C., Pennisi, E., Missaglia, S., & Tavian, D. (2019). Metabolic lipid muscle disorders: biomarkers and treatment. Therapeutic Advances in Neurological Disorders, 12. https://doi.org/10.1177/1756286419843359

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AU - Pennisi, Elena

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AU - Tavian, Daniela

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AB - 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.

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KW - NLSD

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KW - β-oxidation

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