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From Past to Present: Pompe Disease, Pseudodeficiency Alleles, and Diagnostic Challenges

2024-10-04 genetic and genomic medicine Title + abstract only
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Pompe disease is an autosomal recessive disorder caused by GAA variants leading to acid alpha-glucosidase deficiency. Diagnosis is challenging due to the variable phenotypic presentation and overlap with other conditions. Traditionally, diagnosis relies on measuring enzyme activity, but next-generation sequencing (NGS) advancements have improved accuracy. However, interpreting variants is complex, especially because pseudodeficiency alleles mimic disease-causing variants. We present two patients...

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