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The liver contains a protein called alpha-tocopherol transfer protein (alpha-TTP), which is responsible for maintaining higher levels of alpha-tocopherol in the body

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Although no individuals in this study were found to carry any variants in SLC25A20, the gene was incorporated into the CCD panel to enable its future application in broader diagnostic settings, ensuring its utility for patients who may present with CACT deficiency in prospective screenings

Previous research has shown that immuno-metabolic dysregulations map more consistently to symptoms of the atypical spectrum characterized by altered energy intake/output (in particular the reversed neurovegetative symptoms of hyperphagia, hypersomnia with leaden paralysis and fatigue) [2] and symptoms of anhedonia [33]