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Alteration of several metabolic enzymes and pathways that affect KG abundance and KGDD activity have been reported in cancer, such as mutations of the genes encoding isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2), changes in glutaminolysis that deplete KG, and alterations in fumarate hydratase and succinate dehydrogenase that inhibit KGDD activity 11

Some pulmonary function measures showed improvement at one year as expected with normal growth