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Importantly, the metabolic similarity of MCPHA to PDH deficiency (OMIM 312070) indicates the relevance of administering a low-carbohydrate diet to patients with MCPHA to avoid a risk of exacerbating the lactic acidemia

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proposed that TGFBR1 overexpression aggravates retinal inflammation via microglial ferroptosis, yet a contradictory finding indicates no significant association between ferroptosis-related genes and disease progression, suggesting that immune cell infiltration occurs independently of ferroptosis (156)