Abstract
BackgroundPompe disease is an autosomal recessive inherited metabolic disorder caused by a deficiency of the acid α-glucosidase (GAA). Pompe disease manifests as an accumulation of lysosomal glycogen in the skeletal and heart muscle. We conducted newborn screening (NBS) for Pompe disease in Japan from April 2013 to October 2020 to determine the feasibility and utility of NBS for Pompe disease.ResultsFrom the 296,759 newborns whose enzyme activity was measured, 107 of which underwent GAA analysis, we found one patient with infantile-onset Pompe disease (IOPD) and seven with potential late-onset Pompe disease (LOPD). We identified 34 pseudodeficient individuals and 65 carriers or potential carriers. The frequency of patients with IOPD was similar to that in the United States, but significantly lower than that in Taiwan. One patient with IOPD underwent early enzyme replacement therapy within a month after birth before presenting exacerbated manifestations, whereas those with potential LOPD showed no manifestations during the follow-up period of six years.ConclusionsThe frequency of IOPD in Japan was similar to that in the United States, where NBS for Pompe disease is recommended. This indicates that NBS for Pompe disease may also be useful in Japan. Therefore, it should be used over a wider region in Japan.
Highlights
Pompe disease is an autosomal recessive inherited metabolic disorder caused by a deficiency of the acid α-glucosidase (GAA)
Pompe disease, known as glycogen storage disease type II (OMIM 232300), is an autosomal recessive inherited metabolic disorder caused by a deficiency of the enzyme known as acid α-glucosidase (GAA, EC 3.2.1.20/3) that breaks down glycogen in the lysosome, leading to the accumulation of lysosomal glycogen in skeletal and heart muscles [1]
Some newborn screening (NBS) programs for Pompe disease, including ours, have shown that the combination of Acid α-glucosidase (GAA) enzyme assays using dried-blood spot (DBS) cards and GAAgene mutation analysis could be useful in distinguishing false-positive cases from patients with Pompe disease
Summary
Pompe disease is an autosomal recessive inherited metabolic disorder caused by a deficiency of the acid α-glucosidase (GAA). Known as glycogen storage disease type II (OMIM 232300), is an autosomal recessive inherited metabolic disorder caused by a deficiency of the enzyme known as acid α-glucosidase (GAA, EC 3.2.1.20/3) that breaks down glycogen in the lysosome, leading to the accumulation of lysosomal glycogen in skeletal and heart muscles [1]. The presence of pseudodeficiency alleles are major obstacles that have negatively affected NBS for Pompe disease in our previous pilot program, which analyzed 715 Japanese newborns and 18 previously diagnosed patients [11]. Some NBS programs for Pompe disease, including ours, have shown that the combination of GAA enzyme assays using dried-blood spot (DBS) cards and GAAgene mutation analysis could be useful in distinguishing false-positive cases from patients with Pompe disease
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