{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T14:10:09Z","timestamp":1745763009155,"version":"3.40.4"},"reference-count":13,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2015,6,4]]},"abstract":"<jats:p>Pompe disease, or glycogen storage disease type II (GSD2), an autosomal recessive disease first described by Joannes Cassianus Pompe (1901\u20131945), causes deficient activity of acid \u03b1-glucosidase (<jats:italic>GAA<\/jats:italic>) enzyme.<jats:italic>GAA<\/jats:italic>catalyses \u03b1 1,4 and \u03b1 1,6 glucosidic linkages in lysosomes; destruction of these linkages permits glycogen to be separated into glucose and later used for energy. Without proper function of this enzyme, glycogen accumulates in lysosome, causing muscle hypotonia. We report a previously undescribed association of c.1437G&gt;A intron 9 substitution on the<jats:italic>GAA<\/jats:italic>gene with severe infantile-onset Pompe disease in a deceased proband and carrier status in four of five surviving family members. Previous authors have found late-onset or moderate severity infantile-onset Pompe disease associated with this allelic variation. Our proband\u2019s family\u2019s village was suspicious for locally endemic disease. While our proband developed all features of classic infantile onset GSD2, socioeconomic and geographic factors initially suggested an infectious aetiology.<\/jats:p>","DOI":"10.1136\/bcr-2015-210688","type":"journal-article","created":{"date-parts":[[2015,7,9]],"date-time":"2015-07-09T13:40:33Z","timestamp":1436449233000},"page":"bcr2015210688","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["c.1437G&gt;A intron 9 substitution on acid \u03b1-glucosidase gene associated with classic infantile-onset Pompe disease phenotype"],"prefix":"10.1136","volume":"2015","author":[{"given":"Andr\u00e9s","family":"Morales","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3134-1580","authenticated-orcid":false,"given":"Mikaela I","family":"Poling","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco T","family":"P\u00e1ez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julio","family":"Cabrera","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rodger J","family":"McCormick","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2015,7,9]]},"reference":[{"key":"2025042706465538000_2015.jul09_1.bcr2015210688.1","first-page":"304","article-title":"Over idiopathische hypertrophie van het hart","volume":"76","author":"Pompe","year":"1932","journal-title":"Ned Tijdschr Geneeskd"},{"key":"2025042706465538000_2015.jul09_1.bcr2015210688.2","unstructured":"Myozyme\u00ae [package insert]. Cambridge, MA: Genzyme Corporation, 2014."},{"key":"2025042706465538000_2015.jul09_1.bcr2015210688.3","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000218152.87434.f3"},{"key":"2025042706465538000_2015.jul09_1.bcr2015210688.4","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1994.2360"},{"key":"2025042706465538000_2015.jul09_1.bcr2015210688.5","unstructured":"Pompe Mutation Database. Center for lysosomal and metabolic diseases. Rotterdam, The Netherlands: Erasmus MC. 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