Integrating enzyme assay and molecular genetic testing for early diagnosis of infantile-onset Pompe disease: A case report

Infantile-onset Pompe disease should be considered in infants presenting with hypotonia, recurrent respiratory infections, feeding difficulties, and delayed motor milestones. Combining dried blood spot enzyme assay with confirmatory molecular testing of the <b><i>GAA</i></b> gene enables timely diagnosis, informs counseling, and guides management even in settings where access to enzyme replacement therapy is limited.