Diagnosis of Pompe disease typically involves a combination of clinical evaluation, laboratory tests, and genetic analysis. Key diagnostic methods include:
Enzyme assay: Measures the activity of acid alpha-glucosidase in blood, muscle, or fibroblasts. Reduced enzyme activity indicates Pompe disease. Genetic testing: Identifies mutations in the GAA gene, confirming the diagnosis. Newborn screening: Some regions include Pompe disease in their newborn screening programs, allowing for early detection and intervention.
