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Inborn errors Congenital defects involve enzyme deficiencies in the carnitine transport or metabolic pathways, such as CPT II deficiency, which affects the function of the carnitine transporter CPT II and leads to impaired fatty acid -oxidation, and CACT deficiency, which affects the function of the carnitine transporter CACT and results in carnitine shuttle dysfunction
13(4):13 ( Epub 2020 Apr 1
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