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Minerva Med 1989;80(3):227-231

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)

Pleiotropic effects of the carnitine pool Carnitine can be combined with fatty acid chains of different lengths to derive a variety of acylcarnitines, which are amphiphilic because they contain hydrophilic quaternary ammonium groups and hydrophobic carbon chains [5], and acylcarnitines of different chain lengths have diverse chemical structure and metabolic pathways, making them widely involved in pathophysiology

Thus the basic role of these amino acids is to transfer or use fat from our body into the cells for energy production to carry out basic activities

The experimental design was shown in Fig