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Korean Journal of Pediatrics 2007;50(2):213-217.
Published online February 15, 2007.
Clinical improvement in a case of atypical infantile onset Pompe disease with enzyme replacement therapy
You Hoon Jeon1, Baik-Lin Eun2, Chang Sung Son2, Dong Hwan Lee1
1Department of Pediatrics, College of Medicine, Soonchunhyang University, Korea
2Department of Pediatrics, College of Medicine, Korea University, Seoul, Korea
효소 보충 치료로 호전을 보인 비전형적 영아형 Pompe 병 1례
전유훈1, 은백린2, 손창성2, 이동환1
1순천향대학교 의과대학 소아과학교실
2고려대학교 의과대학 소아과학교실
Correspondence:  Dong Hwan Lee,
Email: ldh@hosp.sch.ac.kr
Abstract
Pompe disease is a genetic disorder caused by a deficiency of acid α-glucosidase (GAA). Infantile onset Pompe disease is uniformly lethal. Affected infants generally present in the first few months of life with hypotonia, generalized muscle weakness, and a hypertrophic cardiomyopathy, which is rapidly followed by death, usually by the age of one. The late-onset form is characterized less severe symptoms and prognosis. Therapy for Pompe disease is intended to directly address the underlying metabolic defect via intravenous infusions of recombinant human GAA to replace the missing enzyme. We report a case of atypical infantile-onset Pompe disease that presented symptoms in infancy but had less severe clinical manifestations and improved after GAA enzyme replacement (Myozyme , Genzyme Co., MA, USA) therapy. It is very important that pediatricians become aware of signs and symptoms of Pompe disease, such as a nasal voice or a waddling gait at an early stage so that these patients can benefit from appropriate GAA replacement therapy as soon as possible.
Key Words: Pompe disease , Alpha-glucosidases , Replacement therapy


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