AGXT and primary hyperoxaluria type 1: 145 causing disease mutations were described in PH1 [11], which four (c.508G > A (p.G170R), c.33_34insC (p.K12QfsX156), c.731T > C (p.I244T) and c.454T > A (p.F152I)) account for more than 50% of PH1 alleles and form the basis for diagnostic genetic screening for PH1 [12].