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Korean J Pediatr > Accepted Articles
DOI: https://doi.org/10.3345/kjp.2018.06968    [Accepted]
Published online October 23, 2018.
Clinical and molecular characterization of Korean children with infantile and late-onset Pompe disease: 10 years of experience with enzyme replacement therapy at a single center
Min-Sun Kim1, Ari Song1, Minji Im1, June Huh1, I-Seok Kang1, Jinyoung Song1, Aram Yang2, Jinsup Kim3, Eun-Kyung Kwon4, Eu -Jin Choi4, Sun-Ju Han5, Hyung-Doo Park6, Sung Yoon Cho1  , Dong-Kyu Jin1
1Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea
2Department of Pediatrics, Inha University College of Medicine, Incheon, Korea
3Department of Pediatrics, Hanyang University College of Medicine, Seoul, Korea
4Child health advanced practice nurse, Department of Pediatrics, Samsung Medical Center, Seoul, Republic of Korea
5Clinical research coordinator, Samsung Biomedical Research Institute, Seoul, Korea
6Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea
Correspondence:  Sung Yoon Cho, Tel: +82-2-6190-5227, Fax: +82-2-3410-0830, 
Email: nadri1217@naver.com
Received: 30 August 2018   • Revised: 5 October 2018   • Accepted: 22 October 2018
Abstract
Purpose
Pompe disease (PD) is an autosomal recessive disorder caused by a deficiency of acid alpha-glucosidase resulting from pathogenic GAA variants. The present study described clinical features, genotypes, changes before and after enzyme replacement therapy (ERT), and long-term outcomes in patients with infantile-onset PD (IOPD) and late-onset PD (LOPD) in one tertiary medical center.
Methods
Five Korean patients (two males and three females) diagnosed with PD between 2002 and 2013 at Samsung Medical Center in Seoul, Republic of Korea. Their medical records were retrospectively reviewed for data including clinical and genetic characteristics at diagnosis and clinical course after ERT.
Results
Common initial symptoms included hypotonia, cyanosis, and tachycardia in patients with IOPD and limb girdle weakness in patients with LOPD. Electrocardiography at diagnosis revealed hypertrophic cardiomyopathy (HCMP) in all patients with IOPD who showed a stable disease course during a median of 10 years of follow-up. LOPD patients showed improved hepatomegaly and liver transaminase level after ERT.
Conclusion
Early identification of PD is very important, as ERT is effective for treatment. Patients with IOPD should be considered as candidates for clinical trials of new drugs in the future, as this study indicates the effectiveness of ERT in IOPD.
Key Words: Glycogen storage disease II, Alglucosidase alfa, Enzyme replacement therapy, GAA, Hypotonia


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