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Usually temporary effect normalizing after 1-2 weeks

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The diagnosis is established by demonstrating abnormally low plasma free carnitine concentrations, reduced carnitine transport of fibroblasts from skin biopsy, and molecular analysis of the gene coding for OCTN2 (33, 34)

It is commonly investigated in preclinical research models relating to peptide signalling pathways, cellular communication mechanisms, and broader biological processes involving peptide-mediated activity