J Genet Med.  2009 Dec;6(2):161-165.

Two Patients with Atypical Infantile Pompe Disease Presenting with Hypertrophic Cardiomyopathy

Affiliations
  • 1Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea. hwyoo@amc.seoul.kr
  • 2Medical Genetics Clinic and Laboratory, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.
  • 3Department of Medical Genetics, Ajou University School of Medicine, Suwon, Korea.

Abstract

Pompe disease (glycogen storage disease type II) is an autosomal recessive disorder caused by deficiency of acid-alpha-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.

Keyword

Non-classic infantile Pompe disease; acid-alpha-glucosidase (GAA); hypertrophic cardiomyopathy
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