{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T16:44:31Z","timestamp":1767890671682,"version":"3.49.0"},"reference-count":50,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,9,8]],"date-time":"2022-09-08T00:00:00Z","timestamp":1662595200000},"content-version":"vor","delay-in-days":250,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Infantile\u2010onset Pompe disease (IOPD) is the most severe phenotype of a lysosomal storage disorder caused by acid alpha\u2010glucosidase (GAA) deficiency. An enzymatic newborn screening (NBS) program started regionally in Japan in 2013 for early enzyme replacement therapy (ERT). We report the ERT responses of the first NBS\u2010identified Japanese IOPD case and of another case diagnosed prior to NBS, to discuss the problems of promptly starting ERT in Japan.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Acid alpha\u2010glucosidase activity was measured by fluorometric assay in both patients. The diagnosis of IOPD was confirmed by next\u2010generation followed by Sanger\u2010method sequencing (patient 1) or direct sequencing of polymerase chain reaction (PCR)\u2010amplified products (patient 2) of the <jats:italic>GAA<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A female infant identified by NBS had a novel out\u2010of\u2010frame (p.F181Dfs*6) variant and a reported pathogenic (p.R600C) variant, along with two pseudodeficiency variants. Enzyme replacement therapy was started at age 58\u2009days when the infant had increased serum levels of creatine kinase and slight myocardial hypertrophy. Clinical and biochemical markers improved promptly. She has been alive and well without delayed development at age 14\u2009months. Patient 2, a Japanese male, received a diagnosis of IOPD at age 5\u2009months before the NBS era. He had a homozygotic variant of <jats:italic>GAA<\/jats:italic> (p.R608X), later registered as a cross\u2010reactive immunological material (CRIM)\u2010negative genotype, and developed a high titer of anti\u2010rhGAA antibodies. The patient has survived myocardial hypertrophy with continuous respiratory support for 12\u2009years of ERT.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Enzyme replacement therapy should not be delayed over the age of 2\u2009months for reversible cardiac function, although CRIM\u2010negative cases may hamper turnaround time reduction.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ped.15286","type":"journal-article","created":{"date-parts":[[2022,6,29]],"date-time":"2022-06-29T06:53:35Z","timestamp":1656485615000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["The earliest enzyme replacement for infantile\u2010onset Pompe disease in Japan"],"prefix":"10.1111","volume":"64","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8710-4886","authenticated-orcid":false,"given":"Vlad","family":"Tocan","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Graduate School of Medical 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