M.W., J.C.M., C.J.D. development to treat PH1. Main hyperoxaluria type 1 (PH1, OMIM 259900) is definitely a rare autosomal recessive disorder caused by a functional deficiency of the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT, EC 2.6.1.44) due to mutations in the gene. AGT catalyzes the transamination (detoxification) of glyoxylate to Continue Reading