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Updated: Jul 13, 2026
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
[Enzyme replacement therapy in Pompe's disease]
Tobias Merk1, Thomas Wibmer, Christian Schumann
1Innere Medizin II, Universitätsklinikum Ulm, Ulm.
Insights
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.
- 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.
Background:
Pompe's disease, a rare, inherited deficiency of the enzyme alpha-1,4-glucosidase (GAA), is a lysosomal storage disorder. Early-onset (infantile) Pompe's disease is associated with cardiomegaly and severe myopathy and, if left untreated, will inevitably lead to death within the first 2 years of life. In juvenile Pompe's disease, progression of the disease is generally slower and involvement of the myocardium is less likely with onset at a later age. The adult form of Pompe's disease is frequently associated with a progressive proximal myopathy which is more marked in the lower limbs. Involvement of the respiratory system is common. A new treatment with intravenous enzyme replacement (Myozyme) is now available. At present, there is only limited data available regarding its efficacy in the treatment of the adult form of Pompe's disease.
Case Report:
A 67-year-old lady with Pompe's disease and known severe respiratory compromise due to involvement of the respiratory muscles had had recurrent emergency admissions with respiratory failure. After only a few weeks of treatment with intravenous enzyme replacement with Myozyme, significant improvement in her respiratory function was noticed. Following a total length of treatment of 7 months, her arterial blood gas results on room air had almost returned to normal.
Conclusion:
A glycogen storage disorder (type II) should be excluded in all adult patients with a slowly progressive weakness involving pelvic and thigh muscles even when respiratory involvement is not present. In addition to supportive treatment, a new enzyme replacement therapy for patients with late-onset disease has now become available which shows promising results.
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