AGXT and primary hyperoxaluria type 1: Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive metabolic disease caused by mutations in the AGXT gene that encodes the liver-specific peroxisomal alanine-glyoxylate aminotransferase (AGT) that catalyses the transamination of glyoxylate to glycine (Danpure and Jennings, 1986; Cochat and Rumsby, 2013).