Molecular BiologybioRxivPreprint
Insulin stimulated upregulation of OCTN2 carnitine transporters is impaired in patients with Primary carnitine deficiency
Rannvá Dahl, Tórur Sjúrðarson, Poula Patursson…·Clara Prats
This study investigates whether hyperinsulinemia enhances L-carnitine uptake in PCD patients and finds that insulin stimulates OCTN2 translocation in controls but not in PCD patients, with no significant increase in skeletal muscle carnitine levels in PCD.
DOI 10.1101/2025.09.22.677318