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Related Experiment Video

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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

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p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?

Marian A Kroos¹, Reinier A Mullaart, Laura Van Vliet

¹Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.

European Journal of Human Genetics : EJHG

|February 28, 2008

Summary

Acid alpha-glucosidase deficiency variants are common in Asian populations but do not cause Pompe disease. These findings may lead to false positives in newborn screening programs.

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Area of Science:

Genetics
Biochemistry
Rare Diseases

Background:

Pompe disease, caused by acid alpha-glucosidase deficiency, is rare in Asian populations.
The acid alpha-glucosidase gene (GAA) encodes the enzyme responsible for glycogen breakdown.

Observation:

Four cases of acid alpha-glucosidase deficiency without Pompe disease symptoms were identified in individuals of Asian descent.
Three cases were homozygous for the GAA variant c.[1726G>A; 2065G>A] (p.[G576S; E689K]), presenting with varied symptoms or none.
One case was a compound heterozygote with another GAA variant, also asymptomatic.

Findings:

The GAA allele c.[1726A; 2065A] is common in Japanese and Chinese populations, with an estimated 4% homozygosity.
Homozygosity for c.[1726A; 2065A] does not appear to cause Pompe disease, despite low enzyme activity in some individuals.
The prevalence of this variant contrasts with the rarity of Pompe disease in these populations.

Implications:

Homozygosity for the c.[1726A; 2065A] GAA variant may lead to false positives in newborn screening for Pompe disease, particularly in Asian populations.
Genetic screening protocols may need refinement to distinguish between asymptomatic carriers and individuals with active disease.
Further research is needed to understand the clinical significance of this common GAA genotype.