期刊
THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS
卷 12, 期 -, 页码 -出版社
SAGE PUBLICATIONS LTD
DOI: 10.1177/1756286419843359
关键词
Carnitine; CPTz; beta-oxidation; Riboflavin; NLSD
资金
- Telethon [GGP14066D]
- EuroBiobank
- Biobank BBMRNR, part of the BBMRI-ERIC network
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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