{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T12:16:31Z","timestamp":1791288991589,"version":"4.3.0"},"reference-count":65,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2020,4,5]],"date-time":"2020-04-05T00:00:00Z","timestamp":1586044800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Research on Rare and Intractable Diseases, Health and Labor Sciences Research","award":["no"],"award-info":[{"award-number":["no"]}]},{"name":"Pediatric Research from the Ministry of Health, Labor and Welfare; a Grant-in-Aid from Japan Agency for Medical Research and Development","award":["no"],"award-info":[{"award-number":["no"]}]},{"name":"Scientific Research from the Ministry of Education, Culture, Sports, Science, and Technology","award":["no"],"award-info":[{"award-number":["no"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJNS"],"abstract":"<jats:p>Glycogen storage disease type II (also known as Pompe disease (PD)) is an autosomal recessive disorder caused by defects in \u03b1-glucosidase (A\u03b1Glu), resulting in lysosomal glycogen accumulation in skeletal and heart muscles. Accumulation and tissue damage rates depend on residual enzyme activity. Enzyme replacement therapy (ERT) should be started before symptoms are apparent in order to achieve optimal outcomes. Early initiation of ERT in infantile-onset PD improves survival, reduces the need for ventilation, results in earlier independent walking, and enhances patient quality of life. Newborn screening (NBS) is the optimal approach for early diagnosis and treatment of PD. In NBS for PD, measurement of A\u03b1Glu enzyme activity in dried blood spots (DBSs) is conducted using fluorometry, tandem mass spectrometry, or digital microfluidic fluorometry. The presence of pseudodeficiency alleles, which are frequent in Asian populations, interferes with NBS for PD, and current NBS systems cannot discriminate between pseudodeficiency and cases with PD or potential PD. The combination of GAA gene analysis with NBS is essential for definitive diagnoses of PD. In this review, we introduce our experiences and discuss NBS programs for PD implemented in various countries.<\/jats:p>","DOI":"10.3390\/ijns6020031","type":"journal-article","created":{"date-parts":[[2020,4,6]],"date-time":"2020-04-06T05:05:13Z","timestamp":1586149513000},"page":"31","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":58,"title":["Newborn Screening for Pompe Disease"],"prefix":"10.3390","volume":"6","author":[{"given":"Takaaki","family":"Sawada","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto 860-8556, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1328-6696","authenticated-orcid":false,"given":"Jun","family":"Kido","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto 860-8556, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimitoshi","family":"Nakamura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto 860-8556, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,4,5]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"9641","DOI":"10.1073\/pnas.83.24.9641","article-title":"Isolation of a cDNA for human acid \u03b1-glucosidase and detection of genetic heterogeneity for mRNA in three \u03b1-glucosidase-deficient patients","volume":"83","author":"Martiniuk","year":"1986","journal-title":"Proc. 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