{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T02:16:39Z","timestamp":1758161799190,"version":"3.44.0"},"reference-count":38,"publisher":"Mathematical Modelling and Numerical Simulation with Applications","issue":"01","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Intensive Care"],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pompe disease (PD) is an autosomal recessive lysosomal storage disorder caused by a deficiency of acid \u03b1-1,4-glucosidase enzyme (GAA). PD has two forms, namely the infantile-onset and the late-onset form. In untreated cases, infantile-onset form usually leads to cardio-respiratory failure and death in the first year of life. Herein, we report a newborn with infantile-onset PD characterized by muscular hypotonia, respiratory distress, hypertrophic cardiomyopathy, hepatomegaly, elevated serum enzyme levels of aspartate aminotransferase of 117\u2009IU\/L (three times the normal value), alanine aminotransferase of 66\u2009IU\/L (1.8 times the normal value), lactate dehydrogenase of 558\u2009IU\/L (1.2 times the normal value), and creatine kinase &gt;5,000\u2009IU\/L (16 times the normal value). Dried blood spot testing was performed and revealed decreased GAA enzymatic activity (0.07\u2009nmol\/mL\/h, normal 0.93\u20137.33\u2009nmol\/mL\/h). GAA gene analysis performed for confirming the diagnosis showed homozygous mutation c.896T &gt;C (p.Leu299Pro). Initiation of enzyme replacement therapy (ERT) (ERT; 20\u2009mg\/kg, once every week) at 28 days of age resulted in weaning off from respiratory support within 1 week after treatment, normalization of cardiac abnormalities, and normal neuromotor development in the 16th month of age. Early diagnosis and early treatment with ERT, especially in the neonatal period, is of great importance to improve cardiac function and motor development in infantile-onset PD.<\/jats:p>","DOI":"10.1055\/s-0040-1714099","type":"journal-article","created":{"date-parts":[[2020,7,15]],"date-time":"2020-07-15T18:56:14Z","timestamp":1594839374000},"page":"062-066","source":"Crossref","is-referenced-by-count":0,"title":["A Newborn with Infantile-Onset Pompe Disease Improving after Administration of Enzyme Replacement Therapy: Case Report"],"prefix":"10.53391","volume":"11","author":[{"given":"Meltem","family":"Bor","sequence":"additional","affiliation":[{"name":"Department of Neonatology, Harran University School of Medicine, Sanliurfa, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ozkan","family":"Ilhan","sequence":"additional","affiliation":[{"name":"Department of Neonatology, Harran University School of Medicine, Sanliurfa, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Evren","family":"Gumus","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Harran University School of Medicine, Sanliurfa, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Solmaz","family":"Ozkan","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics, Kumluca State Hospital, Kumluca, Antalya, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meryem","family":"Karaca","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism and Nutrition, Harran University School of Medicine, Sanliurfa, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"31409","published-online":{"date-parts":[[2020,7,15]]},"reference":[{"key":"ref1","first-page":"304","article-title":"Concerning idiopathic hypertrophy of the heart","volume":"76","author":"J C Pompe","year":"1932","journal-title":"Ned Tijdschr Geneeskd"},{"issue":"02","key":"ref2","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1542\/peds.112.2.332","article-title":"The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature","volume":"112","author":"H M van den Hout","year":"2003","journal-title":"Pediatrics"},{"issue":"05","key":"ref3","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1097\/01.gim.0000218152.87434.f3","article-title":"Pompe disease diagnosis and management guideline","volume":"8","author":"P S Kishnani","year":"2006","journal-title":"Genet Med"},{"issue":"S 01","key":"ref4","doi-asserted-by":"crossref","first-page":"S4","DOI":"10.1542\/peds.2016-0280C","article-title":"Newborn screening for Pompe disease","volume":"140","author":"O A Bodamer","year":"2017","journal-title":"Pediatrics"},{"issue":"04","key":"ref5","first-page":"271","article-title":"Infantile-onset Pompe disease: diagnosis and management","volume":"117","author":"L B Bay","year":"2019","journal-title":"Arch Argent Pediatr"},{"issue":"01","key":"ref6","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1186\/s12881-019-0878-8","article-title":"Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand","volume":"20","author":"L Ngiwsara","year":"2019","journal-title":"BMC Med Genet"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"31","DOI":"10.3390\/ijns6020031","article-title":"Newborn screening for Pompe disease","volume":"6","author":"T Sawada","year":"2020","journal-title":"Int J Neonatal Screen"},{"issue":"02","key":"ref8","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1017\/S1047951111001259","article-title":"Reference values for echocardiographic measurements of healthy newborns","volume":"22","author":"A G\u00fczelta\u015f","year":"2012","journal-title":"Cardiol Young"},{"key":"ref9","first-page":"3389","volume-title":"Glycogen storage disease type II: acid 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Kumar","year":"2017","journal-title":"J Clin Diagn Res"},{"issue":"S 03","key":"ref13","doi-asserted-by":"crossref","first-page":"S389","DOI":"10.1007\/s10545-010-9195-2","article-title":"Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case report","volume":"33","author":"M Del Rizzo","year":"2010","journal-title":"J Inherit Metab Dis"},{"issue":"01","key":"ref14","doi-asserted-by":"crossref","first-page":"235","DOI":"10.3892\/etm.2015.2862","article-title":"Infantile Pompe disease: a case report and review of the Chinese literature","volume":"11","author":"Y Liu","year":"2016","journal-title":"Exp Ther Med"},{"issue":"51","key":"ref15","doi-asserted-by":"crossref","first-page":"e9186","DOI":"10.1097\/MD.0000000000009186","article-title":"Infantile-onset Pompe disease with neonatal debut: a case report and literature review","volume":"96","author":"M Mart\u00ednez","year":"2017","journal-title":"Medicine 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distress in the newborn","volume":"35","author":"S Reuter","year":"2014","journal-title":"Pediatr Rev"},{"issue":"09","key":"ref27","doi-asserted-by":"crossref","first-page":"e66","DOI":"10.1542\/pir.30.9.e66","article-title":"The floppy infant: evaluation of hypotonia","volume":"30","author":"D E Peredo","year":"2009","journal-title":"Pediatr Rev"},{"key":"ref28","first-page":"11","article-title":"Pompe disease presenting with supraventricular tachycardia in the early neonatal period: case report","volume":"22","author":"S Demirpence","year":"2014","journal-title":"Turkiye Klinikleri J Case Rep"},{"key":"ref29","first-page":"19","article-title":"Meconium aspiration syndrome: challenges and solutions","volume":"7","author":"A Goel","year":"2017","journal-title":"Res Rep Neonatol"},{"issue":"S 01","key":"ref30","doi-asserted-by":"crossref","first-page":"S24","DOI":"10.1542\/peds.2016-0280E","article-title":"Management of confirmed newborn-screened patients with Pompe disease across the 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