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Updated: Feb 10, 2026
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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
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A New Mutation Causing Severe Infantile-Onset Pompe Disease Responsive to Enzyme Replacement Therapy
Hossein Moravej1,2, Anis Amirhakimi2, Alireza Showraki3
1Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Iranian Journal of Medical Sciences
|May 12, 2018
Summary
Infantile-onset Pompe disease (IOPD) is a severe genetic disorder. A novel nonsense mutation in the GAA gene was identified in an Iranian child, who responded well to enzyme-replacement therapy (ERT).
Area of Science:
- Genetics
- Biochemistry
- Pediatrics
Background:
- Pompe disease (PD), or glycogen storage disease type II, is an autosomal recessive disorder caused by mutations in the acid alpha-glucosidase (GAA) gene.
- Infantile-onset Pompe disease (IOPD) presents with severe hypertrophic cardiomyopathy and hypotonia, leading to progressive lysosomal glycogen accumulation and cellular damage.
Observation:
- A novel nonsense mutation in exon 4 of the GAA gene was identified in an Iranian neonate with IOPD.
- The patient presented with hypertrophic cardiomyopathy and a family history of IOPD.
Findings:
- Enzyme-replacement therapy (ERT) was initiated at 2 months of age.
- At 20 months, the patient exhibited normal growth, development, and echocardiographic parameters, indicating successful treatment.
Implications:
- This case demonstrates the successful treatment of IOPD in a patient with this specific novel GAA gene mutation using ERT.
- Early diagnosis and timely ERT can lead to favorable outcomes in infants with Pompe disease.
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