The discovery of AGXT encoding AGT as the gene involved in PH1, which dates back to 1986 [9], has laid the foundations for the introduction of two therapeutic approaches which remained the only ones available until a few years ago: (i) the administration of Vitamin B6, a PLP precursor, which promotes the formation of the holoenzyme [19,20], and (ii) liver transplantation, that restores glyoxylate detoxification by substituting the entire pool of AGT. Here, AGT is linked to primary hyperoxaluria type 1.