Clinical and Molecular Features of Our Pompe Patients: Single-Center Experience

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dc.contributor.authorOnay, Hüseyin
dc.contributor.authorYıldırım, Eser Sözmen
dc.contributor.authorGürsoy, Semra
dc.contributor.authorKağnıcı, Mehtap
dc.contributor.authorKöse, Melis
dc.contributor.authorKöse, Engin
dc.contributor.authorYılmaz, Ünsal
dc.date.accessioned2023-01-12T20:32:41Z
dc.date.available2023-01-12T20:32:41Z
dc.date.issued2020
dc.departmentN/A/Departmenten_US
dc.description.abstractIntroduction: Pompe disease (PD), glycogen storage disease Type II (GSD II), is an autosomal recessive inherited lysosomal storage disease caused by pathogenicvariants in the GAA gene that encodes lysosomal acid ?-glucosidadase (GAA) enzyme. The incidence of the disease varies from country to country. PD is mainlypresents as two groups of phenotypes as infantile-onset Pompe disease (IOPD) and late-onset Pompe disease.Objective: The aim of this study is to discuss the molecular and clinical characteristics of infantile-onset Pompe disease (IOPD) and late-onset pompe disease(LOPD) followed-up in our center.Method: A total of 10 patients diagnosed with IOPD and 4 patients diagnosed with LOPD in Izmir Dr. Behcet Uz Pediatric Health and Diseases and Surgery Trainingand Research Hospital Pediatric Metabolism Unit between 06.01.2015 and 06.01. 2019 were included in the study. The patients’ demographic characteristics,clinical findings at the time of diagnosis and during the folllow-up period, biochemical findings, muscle biopsy data, results of enzymatic analyses and moleculargenetic characteristics were recorded retrospectively.Results: A total of 10 patients were included in the study. 7 patients were diagnosed with IOPD and 3 patients with LOPD. The median follow-up period of allpatients was 26 months (range: 6-42 months). The c.896 C> T (8/32, 25%) is detected as the most common variant. 1237G>T (p.Asp413Tyr), c.2019 C>A(p.Asn673Lys), c.418A>T (p.Asn140Tyr) variants were detected for the first time.Conclusion: Pompe disease is one of the most important congenital metabolic diseases in which early diagnosis and treatment are of great importance. Despitethe significant improvement in disease prognosis with the introduction of enzyme replacement therapy, there are still patients with poor prognosis despite earlydiagnosis. Phenotype-genotype studies are crucial in this respect.en_US
dc.identifier.doi10.5222/BMJ.2020.91855
dc.identifier.endpage55en_US
dc.identifier.issn1305-9319
dc.identifier.issn1305-9327
dc.identifier.issue1en_US
dc.identifier.startpage49en_US
dc.identifier.trdizinid332748en_US
dc.identifier.urihttps://doi.org/10.5222/BMJ.2020.91855
dc.identifier.urihttps://search.trdizin.gov.tr/yayin/detay/332748
dc.identifier.urihttps://hdl.handle.net/11454/81199
dc.identifier.volume16en_US
dc.indekslendigikaynakTR-Dizinen_US
dc.language.isoenen_US
dc.relation.ispartofBakırköy Tıp Dergisien_US
dc.relation.publicationcategoryMakale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.titleClinical and Molecular Features of Our Pompe Patients: Single-Center Experienceen_US
dc.typeArticleen_US

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