As shown in Table 2, the homozygotes or compound heterozygotes cases with two mutations in SLC5A2 gene presented with middle to severe degree glucosuria (24 h glucose excretion 10.56–50.68 g/1.73 m2); However the carriers of heterozygous variants manifested with normal or mild glucosuria (24 h glucose excretion ≤2.45 g/1.73 m2). The gene discussed is SLC5A2; the disease is Glycosuria.