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A landmark 2022 peer-reviewed study published in the journal Genes investigated the effects of combining pantothenate and L-carnitine on patient-derived mutant fibroblasts (connective tissue cells) modeling KAT6A syndrome

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However, the clinical relevance of this is unclear, as levels were still much lower than those seen in individuals unaffected by MMA ( 35% to 55%) [34], and the CO 2 production estimate used in this study (5 mmol/min/m 2 of body surface area) may differ from actual production rates in patients with MMA

The most consistent results so far are grey matter alterations in the basal ganglia, areas of the limbic system such as the anterior cingulate cortex, hippocampus, insula, etc., and prefrontal areas like the orbitofrontal cortex, sometimes even more pronounced in association with self-reported fatigue or neurocognitive impairment [12, 35, 49]

Different mechanisms including DNA damage, promotion of lipid peroxidation, and protein modification are caused by oxidative stress lead to tissue damages which have been implicated in the pathogenesis of various systemic diseases