{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,17]],"date-time":"2026-02-17T11:44:49Z","timestamp":1771328689466,"version":"3.50.1"},"reference-count":42,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2025,9,3]],"date-time":"2025-09-03T00:00:00Z","timestamp":1756857600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100004339","name":"Sanofi-Aventis","doi-asserted-by":"publisher","award":["FF-2021-264"],"award-info":[{"award-number":["FF-2021-264"]}],"id":[{"id":"10.13039\/100004339","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004339","name":"Sanofi-Aventis","doi-asserted-by":"publisher","award":["DPK-2022-003"],"award-info":[{"award-number":["DPK-2022-003"]}],"id":[{"id":"10.13039\/100004339","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004515","name":"Universiti Kebangsaan Malaysia","doi-asserted-by":"publisher","award":["FF-2021-264"],"award-info":[{"award-number":["FF-2021-264"]}],"id":[{"id":"10.13039\/501100004515","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004515","name":"Universiti Kebangsaan Malaysia","doi-asserted-by":"publisher","award":["DPK-2022-003"],"award-info":[{"award-number":["DPK-2022-003"]}],"id":[{"id":"10.13039\/501100004515","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJNS"],"abstract":"<jats:p>Pompe disease is an autosomal recessive metabolic disorder caused by acid alpha-glucosidase (GAA) deficiency. The use of umbilical cord blood (UCB) for newborn screening (NBS) of Pompe disease, compared to heel-prick sampling, has not been widely studied. This study compared GAA activity in UCB from term newborns with peripheral or heel-prick blood samples obtained on days 1, 2, and 3 after birth. Enzyme assays were performed using UPLC-MS\/MS. Sanger sequencing was conducted in infants with low GAA activity to identify pathogenic variants. Among 4091 UCB samples analyzed over 18 months, the mean GAA activity was 10.04 \u00b1 5.95 \u03bcM\/h, higher in females than males [Median (IQR): 9.83 (5.45) vs. 9.08 (4.97) \u03bcM\/h, respectively, p &lt; 0.001], and similar across ethnicities. GAA levels in UCB and Day 3 heel-prick samples were comparable. A GAA cut-off value of 1.54 \u03bcM\/h (0.1% of study population) identified one infant (0.024% prevalence) with a novel bi-allelic variant\u2014c.2005_2010del (p.Pro669_Phe670del) and c.1123C&gt;T (p.Arg375Cys), and 12 infants with non-pathogenic pseudodeficiency alleles. This study supports GAA measurement in UCB as a viable alternative for NBS, with enzyme activity remaining stable for up to 72 h post-collection. Larger-scale multicenter nationwide studies are warranted to confirm this prevalence in our population.<\/jats:p>","DOI":"10.3390\/ijns11030074","type":"journal-article","created":{"date-parts":[[2025,9,3]],"date-time":"2025-09-03T15:15:57Z","timestamp":1756912557000},"page":"74","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Umbilical Cord Blood Sampling for Newborn Screening of Pompe Disease and the Detection of a Novel Pathogenic Variant and Pseudodeficiency Variants in an Asian Population"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1137-6295","authenticated-orcid":false,"given":"Fook-Choe","family":"Cheah","sequence":"first","affiliation":[{"name":"Department of Paediatrics, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur 56000, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sharifah Azween","family":"Syed Omar","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur 56000, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-1396-1228","authenticated-orcid":false,"given":"Jasmine","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur 56000, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zheng Jiet","family":"Ang","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur 56000, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anu Ratha","family":"Gopal","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur 56000, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wan Nurulhuda","family":"Wan Md Zin","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur 56000, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beng Kwang","family":"Ng","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur 56000, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shu-Chuan","family":"Chiang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, National Taiwan University Hospital, Taipei City 10041, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8802-5728","authenticated-orcid":false,"given":"Yin-Hsiu","family":"Chien","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, National Taiwan University Hospital, Taipei City 10041, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,9,3]]},"reference":[{"key":"ref_1","first-page":"182","article-title":"Recent developments, utilization, and spending trends for Pompe disease therapies","volume":"5","author":"Guo","year":"2012","journal-title":"Am. 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