Pompe Disease Second-Tier Newborn Screening, Blood Spot

Use

Pompe disease, also known as glycogen storage disease type II, is an autosomal recessive disorder caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). This second-tier test is crucial for newborns with an abnormal primary screening result for Pompe disease, characterized by decreased acid alpha-glucosidase enzyme activity. It helps differentiate true cases of infantile and late-onset Pompe disease from false positives, including carriers and pseudodeficiency cases. A positive test result supports further molecular genetic analysis of the GAA gene, aiding in early diagnosis and treatment with enzyme replacement therapy.