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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Improvement in Cardiac Function With Enzyme Replacement Therapy in a Patient With Infantile-Onset Pompe Disease
Dmitriy Niyazov1,2, Diego A Lara1,2
1Department of Pediatrics, Ochsner Hospital for Children, Ochsner Clinic Foundation, New Orleans, LA.
Insights
Enzyme replacement therapy effectively treated a patient with severe infantile-onset Pompe disease and hypertrophic cardiomyopathy, showing significant cardiac improvement. This demonstrates treatment efficacy even in severe cases.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Pompe disease is a rare genetic lysosomal storage disorder.
- It involves abnormal glycogen accumulation, particularly impacting the heart in infantile forms.
- Enzyme replacement therapy (ERT) with alglucosidase alfa is a standard treatment.
Observation:
- A case study of a patient with infantile-onset Pompe disease.
- The patient presented with severe hypertrophic cardiomyopathy and cardiac dysfunction.
- Hypotonia was also a significant clinical feature.
Findings:
- The patient received enzyme replacement therapy (ERT).
- Significant improvement in cardiac systolic function was observed post-ERT.
- This case challenges the notion that severe cardiomyopathy limits ERT responsiveness.
Implications:
- ERT can be effective in infantile Pompe disease even with severe cardiac involvement.
- This finding broadens the potential benefits of ERT for Pompe patients.
- Further research may explore optimal ERT strategies for severe cardiac phenotypes.
Background:
Pompe disease is a lysosomal storage disorder that results from an inborn error of metabolism involving abnormal glycogen storage. Infantile-onset Pompe disease is the most severe phenotype, and enzyme replacement therapy with alglucosidase alfa (Lumizyme) improves medical and functional outcomes in patients with infantile-onset Pompe disease.
Case Report:
We report the case of a patient with infantile-onset Pompe disease who presented with severe hypertrophic cardiomyopathy, systolic and diastolic cardiac dysfunction, and hypotonia. She experienced significant improvement in cardiac systolic function while receiving enzyme replacement therapy.
Conclusion:
Typically, patients with infantile-onset Pompe disease and severe hypertrophic cardiomyopathy are not as responsive to enzyme replacement therapy as patients with mild or no hypertrophic cardiomyopathy. We demonstrated the efficacy of enzyme replacement therapy in a patient with severe hypertrophic cardiomyopathy.
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