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and WATANABE, J
Athanassakis I, Dionyssopoulou E, Papanikou S, Evangeliou A, Vassiliadis S
Primary carnitine deficiency or carnitine transporter defect is an autosomal recessive disorder of fatty acid oxidation caused by heterozygous mutations in the SLC22A5 gene that encodes the high-affinity carnitine transporter, OCTN2
These body composition changes occur through enhancement of mitochondrial function, promotion of fatty acid oxidation over glucose utilization, and reduction of inflammatory processes that accelerate muscle loss
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