We identified 3 variants of AGL gene in patients with GSD III: p. Cys1373Trpfs*11 and p. Try1428X were detected compound heterozygous in patient 9 and already reported in Chinese population (Lu et al., 2016); c.4161 + 2T>G as a novel splicing variation was detected to be homozygous in P8 while her parents were from two unrelated families. Here, AGL is linked to glycogen storage disease III.