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KMID : 1189120090060020161
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대한의학유전학회지
2009 Volume.6 No. 2 p.161 ~ p.165
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Two patients with Atypical Infantile Pompe Disease Presenting with Hypertrophic Cardiomyopathy
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Kim Eun-Hee
Ko Jung-Min
Lee Beom-Hee
Kim Gu-Hwan
Choi Jin-Ho
Yoo Han-Wook
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Abstract
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Pompe disease (glycogen storage disease type II) is an autosomal recessive disorder caused by deficiency of acid-α-glucosidase (GAA) resulting in lysosomal glycogen accumulation in multiple tissue, particularly cardiac and skeletal muscle. The classic infantile form of Pompe disease is characterized by marked cardiomegaly, respiratory failure and severe generalized hypotonia. Most patients die from cardiorespiratory failure or respiratory infection within the first year or two of life without treatment. A "non-classic" phenotype presents with less severe clinical feature and slow progression of disease. We report two patients with non-classic infantile Pompe disease from one family manifested hypertrophic cardiomyopathy and progressive proximal weakness.
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KEYWORD
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Non-classic infantile Pompe disease, acid-α-glucosidase (GAA), hypertrophic cardiomyopathy
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