Clinical and Functional Characterization of Novel AGL Variants in Two Families with Glycogen Storage Disease Type III.

These findings indicated that the two newly identified variants in the AGL gene (c.1484A > G; c.1981G > T) were undoubtedly pathogenic mutations, inducing a slight reduction in glycogen debranching enzyme activity and a mild increase in intracellular glycogen content. Two patients who visited us with abnormal liver function, or hepatomegaly, improved dramatically after treatment with oral uncooked cornstarch, but the effects on skeletal muscle and myocardium required further observation.