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Infantile Pompe disease: clinical and genetic characteristics with an experience of enzyme replacement therapy

Anna Cho1, Su Jin Kim, Byung Chan Lim

  • 1Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.

Journal of Child Neurology
|September 24, 2011
PubMed

Insights

Pompe disease, a genetic disorder, involves acid α-glucosidase deficiency. Enzyme replacement therapy improved muscle and cardiac function in Korean infants, showing its effectiveness and safety for early-onset cases.

Area of Science:

  • Genetics
  • Pediatrics
  • Biochemistry

Background:

  • Pompe disease is an autosomal recessive disorder resulting from lysosomal acid α-glucosidase deficiency.
  • Infantile-onset Pompe disease is characterized by severe cardiomyopathy and hypotonia, often leading to premature death.

Purpose of the Study:

  • To describe the molecular basis and clinical outcomes of enzyme replacement therapy (ERT) in 7 Korean infants with Pompe disease.
  • To report novel mutations associated with Pompe disease in the Korean population.

Main Methods:

  • Molecular genetic analysis was performed to identify mutations in the acid α-glucosidase gene.
  • Four patients received intravenous recombinant human acid α-glucosidase therapy and were monitored for clinical outcomes.

Main Results:

  • Nine different mutations were identified, including five novel mutations.
  • The most frequent mutation observed was c.1316T>A (28%).
  • Patients treated with ERT showed improved muscle strength and cardiac function with no significant adverse effects over a 2-year period.

Conclusions:

  • Pompe disease exhibits significant genetic and clinical heterogeneity.
  • Early diagnosis and timely initiation of enzyme replacement therapy are crucial for improving outcomes in infantile Pompe disease.

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