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Dysfunction of the carnitine transporter OCTN2 is the cause of Primary Carnitine Deficiency (PCD), which is characterized by systemic loss of carnitine with severe clinical manifestations, including fertility issues in both males and females
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Nevertheless, when symptoms correlate closely with treatment initiation or dose changes, medication involvement becomes more likely
This post-translational modification is now recognised as a major mechanism of redox-regulated cell signalling, controlling the activity of transcription factors, kinases, phosphatases, and metabolic enzymes in response to the intracellular redox environment