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When both copies of the gene are non-functional (the mut0 phenotype), the result is life-threatening metabolic acidosis in the first days or weeks of life projectile vomiting, lethargy, coma, and death without emergency intervention

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Pregnenolone acetate (45mg): Chit xut t c mi, Pregnenolone acetate gip cn bng ni tit t, tng cng sc khe sinh l n v ngn nga lo ha

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Here, hypoxia-inducible factor 1-alpha (HIF-1) emerges as a central regulator, dismantling cuproptosis through a dual strategy: by upregulating copper-chelating metallothioneins and by metabolically reprogramming cells to downregulate DLAT, a key enzyme in the lipoylation pathway essential for cuproptosis execution [52, 61]

Pyruvate carboxylase is a key mitochondrial anaplerotic enzyme that catalyzes the conversion of pyruvate to oxaloacetate