The incidence of PCD is about 1 : 40000 with an approximate carrier rate of 1%, although this frequency has been reported to be higher in the Faroe Islands, an isolated archipelago in the North Atlantic.9-11) The disease is caused by heterogeneous mutations of SLC22A5 which encodes the high-affinity carnitine transporter OCTN2 in the plasma membrane.12), 13) OCTN2 is strongly expressed in the myocardium, skeletal muscle, renal tubules, fibroblasts, intestine and placental tissue.14), 15) The Na + -coupled active transport of carnitine via OCTN2 is essential for the maintenance of high carnitine concentrations inside cells
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doi:10.1080/14992027.2020.1805129
Whilst these agents share a similar mechanism of action, differences in formulation, excipients, or pharmacokinetic properties may result in improved tolerability for some patients
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Brain Sci 2021;11:77.ArticlePubMedPMC 91
