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Pompe Disease or Glycogen Storage Disease Type II (GSDII)
GAA gene
Pompe Disease/ Glycogen Storage Disease II (GSDII) is a rare lysosomal storage disease. Patients have been classified with infantile, juvenile or adult onset types. More recently, it has been recognized that there is a continuum of phenotypes between the classical infantile onset and the adult form. Infantile GSDII presents during the first weeks or months of life with poor feeding, failure to thrive, macroglossia, severe hypotonia, cardiomegaly, mild hepatomegaly, and respiratory insufficiency. There is often a rapid progression to cardiac failure and death typically occurs within the first year. Later onset forms are characterized by skeletal muscle weakness, respiratory insufficiency and hepatomegaly. GSDII is caused by mutations in the GAA gene that encodes the enzyme alpha-1,4-glucosidase. In patients with all three types of GSDII, diagnosed by the deficiency of the alpha-1, 4-glucosidase enzyme activity, sequence analysis identified two mutations in approximately 82-93% of cases.
Using genomic DNA, bi-directional sequence of the coding region and splice junctions of the GAA gene (exons 2-20) is analyzed. Carrier testing and prenatal diagnosis is available once the mutation in the family has been defined.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
GSDII, GSD2, Pompe, Alpha-glucosidase deficiency, GAA, lysosomal storage disorder, lysosome, cardiomegaly, storage, alpha-glucosidase, infantile, juvenile, adult, skeletal, respiratory
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