Metabolic lipid muscle disorders: biomarkers and treatment

Sara Missaglia, Daniela Tavian, Corrado Angelini, Elena Pennisi

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

9 Citazioni (Scopus)

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.
Lingua originaleEnglish
pagine (da-a)1-15
Numero di pagine15
RivistaTherapeutic Advances in Neurological Disorders
Volume2019
DOI
Stato di pubblicazionePubblicato - 2019

Keywords

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

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