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KMID : 0918520120120010042
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Journal of the Korean Society of Inherited Metabolic Disease
2012 Volume.12 No. 1 p.42 ~ p.48
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Koran Children with Infantile Pompe Disease Presenting with Hypertrophic Cardiomyopathy: Experiences in a Single Institution
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Ko Jung-Min
Lee Young-Ah
Kim Gi-Beom
Park Sung-Sup
Song Jung-Han
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Abstract
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Pompe disease is a rare lysosomal glycogen storage disorder caused by a total or partial deficiency of the acid α-glucosidase (GAA) enzyme due to the GAA gene mutations. The classic infantile form of Pompe disease is a rapidly progressive multi-organ disease with hypotonia, generalized muscle weakness, and hypertrophic cardiomyopathy, usually leading to death in the first 2 years of life. Enzyme replacement therapy with recombinant human GAA has been shown to be effective and subsequently yielded promising results. Here, we present clinical and genetic characteristics of three Korean non-classic infantile Pompe patients, and the short term efficacy of enzyme replacement therapy. Considering that enzyme replacement therapy can change the natural course of infantile Pompe disease, early diagnosis and early initiation of treatment is critical to improving patient outcomes.
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KEYWORD
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Infantile Pompe disease, Acid α-glucosidasd, GAA gene, Hypertrophic cardiomyopathy
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