These patients presented with severe clinical manifestations in accordance with several studies that reported patients had compound heterozygous mutations in AGXT were complained about of severe symptoms such as recurrent urinary tract infections, urolithiasis, nephrocalcinosis with bone deformities, myocardial infiltration, and left ventricular hypertrophy (He et al., 2019, Mbarek et al., 2011). The gene discussed is AGXT; the disease is nephrocalcinosis.