Metabolic lipid muscle disorders: biomarkers and treatment

Corrado Angelini, Elena Pennisi, Sara Missaglia, Daniela Tavian

Research output: Contribution to journalReview 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 languageEnglish
JournalTherapeutic Advances in Neurological Disorders
Volume12
DOIs
Publication statusPublished - Apr 1 2019

Keywords

  • Carnitine
  • CPTz
  • NLSD
  • Riboflavin
  • β-oxidation

ASJC Scopus subject areas

  • Pharmacology
  • Neurology
  • Clinical Neurology

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