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 | |
| Publication status | Published - Apr 1 2019 |
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Keywords
- Carnitine
- CPTz
- NLSD
- Riboflavin
- β-oxidation
ASJC Scopus subject areas
- Pharmacology
- Neurology
- Clinical Neurology
Cite this
Metabolic lipid muscle disorders : biomarkers and treatment. / Angelini, Corrado; Pennisi, Elena; Missaglia, Sara; Tavian, Daniela.
In: Therapeutic Advances in Neurological Disorders, Vol. 12, 01.04.2019.Research output: Contribution to journal › Review article
}
TY - JOUR
T1 - Metabolic lipid muscle disorders
T2 - biomarkers and treatment
AU - Angelini, Corrado
AU - Pennisi, Elena
AU - Missaglia, Sara
AU - Tavian, Daniela
PY - 2019/4/1
Y1 - 2019/4/1
N2 - 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.
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.
KW - Carnitine
KW - CPTz
KW - NLSD
KW - Riboflavin
KW - β-oxidation
UR - http://www.scopus.com/inward/record.url?scp=85064808118&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85064808118&partnerID=8YFLogxK
U2 - 10.1177/1756286419843359
DO - 10.1177/1756286419843359
M3 - Review article
VL - 12
JO - Therapeutic Advances in Neurological Disorders
JF - Therapeutic Advances in Neurological Disorders
SN - 1756-2856
ER -