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Enzyme replacement therapy in an infant with Pompe's disease with severe cardiomyopathy

F Tanzer1, D Buyukkayhan, E Cansu Mutlu

  • 1Department of Pediatric Metabolism, Medical Faculty, Cumhuriyet University, Sivas, Turkey.

Journal of Pediatric Endocrinology & Metabolism : JPEM
|March 26, 2010
PubMed

Insights

Pompe's disease, a rare genetic disorder, requires early diagnosis for effective treatment. Enzyme replacement therapy offers hope for infantile cases, highlighting the need for increased disease awareness.

Area of Science:

  • Genetics
  • Metabolic Disorders
  • Pediatrics

Background:

  • Pompe disease (glycogen storage disease type II) is an inherited autosomal recessive disorder.
  • Infantile Pompe disease presents with severe hypotonia, hypertrophic cardiomyopathy, and rapid progression to respiratory failure, often proving lethal.

Observation:

  • A 4-month-old girl exhibited rapid disease progression, leading to respiratory failure by 9 months.
  • Clinical response to treatment varies, with earlier intervention yielding better outcomes.

Findings:

  • Enzyme replacement therapy (ERT) is the only available treatment for Pompe disease.
  • Gene therapy is not yet feasible due to challenges in achieving long-term, tissue-specific expression.

Implications:

  • Improved knowledge and early diagnosis are crucial for managing infantile Pompe disease.
  • Recombinant human alpha-glucosidase represents a significant therapeutic hope for affected patients.

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