AGXT and primary hyperoxaluria type 1: Primary hyperoxaluria type 1 (PH1) is a rare inherited metabolic disease characterized by endogenous overproduction of oxalate due to deficiency of the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT), leading to kidney stones, nephrocalcinosis and kidney failure in over 60% of patients.