Establishment of newborn screening and molecular basis of chemical chaperone therapy for glycogen storage disease II

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We demonstrated that the high frequency (3.3-3.9%) of acid α-glucosidase pseudodeficiency, c.[1726G>A ; 2065G>A] homozygote (AA homozygote), in Asian populations complicated newborn screening for glycogen storage disease type II on dried blood spots, since AA homozygotes have a considerably low enzyme activity. We have searched for a method to effectively eliminate hemoglobin in the reaction solution. Hemoglobin precipitation with barium hydroxide and zinc sulfate (Ba/Zn method) carried out after the enzyme reaction considerably enhances the fluorescence intensity. The Ba/Zn method greatly improved the separation between Japanese patients with Pompe disease and unaffected AA homozygotes in the assay on blood spots.