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[Enzyme replacement therapy in Pompe's disease].

Tobias Merk1, Thomas Wibmer, Christian Schumann

  • 1Innere Medizin II, Universitätsklinikum Ulm, Ulm.

Medizinische Klinik (Munich, Germany : 1983)
|July 20, 2007
PubMed
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Pompe disease, a rare genetic disorder, can cause severe respiratory issues in adults. Enzyme replacement therapy (Myozyme) shows promising results in improving respiratory function for late-onset Pompe disease patients.

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Pompe disease is a rare inherited lysosomal storage disorder caused by alpha-1,4-glucosidase (GAA) deficiency.
  • It presents in infantile, juvenile, and adult forms, with varying severity and organ involvement.
  • Adult-onset Pompe disease often features progressive myopathy and respiratory compromise.

Observation:

  • A 67-year-old female with late-onset Pompe disease experienced severe respiratory compromise.
  • She received intravenous enzyme replacement therapy with Myozyme.
  • Recurrent hospitalizations for respiratory failure were noted prior to treatment.

Findings:

  • Significant improvement in respiratory function was observed within weeks of Myozyme treatment.
  • After 7 months of therapy, arterial blood gas results normalized.

Related Experiment Videos

  • This suggests efficacy of enzyme replacement in managing respiratory complications.

    • Implications:

    • Adults with progressive muscle weakness, especially in pelvic and thigh regions, should be evaluated for Pompe disease (glycogen storage disease type II).
    • Enzyme replacement therapy offers a promising treatment option for late-onset Pompe disease.
    • Early diagnosis and intervention can improve patient outcomes and quality of life.