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- W3112524122 endingPage "3842" @default.
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- W3112524122 abstract "Spinal muscular atrophy (SMA), the main genetic cause of infant death, is a neurodegenerative disease characterized by the selective loss of motor neurons in the anterior horn of the spinal cord, accompanied by muscle wasting. Pathomechanically, SMA is caused by low levels of the survival motor neuron protein (SMN) resulting from the loss of the SMN1 gene. However, emerging research extends the pathogenic effect of SMN deficiency beyond motor neurons. A variety of metabolic abnormalities, especially altered fatty acid metabolism and impaired glucose tolerance, has been described in isolated cases of SMA; therefore, the impact of SMN deficiency in metabolic abnormalities has been speculated. Although the life expectancy of these patients has increased due to novel disease-modifying therapies and standardization of care, understanding of the involvement of metabolism and nutrition in SMA is still limited. Optimal nutrition support and metabolic monitoring are essential for patients with SMA, and a comprehensive nutritional assessment can guide personalized nutritional therapy for this vulnerable population. It has recently been suggested that metabolomics studies before and after the onset of SMA in patients can provide valuable information about the direct or indirect effects of SMN deficiency on metabolic abnormalities. Furthermore, identifying and quantifying the specific metabolites in SMA patients may serve as an authentic biomarker or therapeutic target for SMA. Here, we review the main epidemiological and mechanistic findings that link metabolic changes to SMA and further discuss the principles of metabolomics as a novel approach to seek biomarkers and therapeutic insights in SMA." @default.
- W3112524122 created "2020-12-21" @default.
- W3112524122 creator A5006028527 @default.
- W3112524122 creator A5021883054 @default.
- W3112524122 creator A5069154889 @default.
- W3112524122 creator A5091627350 @default.
- W3112524122 date "2020-12-16" @default.
- W3112524122 modified "2023-09-27" @default.
- W3112524122 title "Metabolic and Nutritional Issues Associated with Spinal Muscular Atrophy" @default.
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- W3112524122 doi "https://doi.org/10.3390/nu12123842" @default.
- W3112524122 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7766651" @default.
- W3112524122 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33339220" @default.
- W3112524122 hasPublicationYear "2020" @default.
- W3112524122 type Work @default.