Pompe disease (Glycogen Storage Disease Type II) - Enzyme Analysis
|Disease name||Pompe disease (GSD, Type II)|
|Enzyme Name||Alpha glucosidase|
|Clinical info||Pompe disease is caused by a deficiency of the enzyme alpha-glucosidase (GAA), an enzyme that at normal levels will breakdown glycogen in the body. Infantile-onset Pompe disease is characterized by hypotonia, generalized muscle weakness and hypertrophic cardiomyopathy. Death generally occurs within the first year of life due to cardiac and respiratory failure. The later-onset form shows greater variability with a slowly progressive muscle weakness and respiratory insufficiency. The degree of enzyme deficiency is generally related to the severity and age of onset.|
|Indications||Patients with suspected Pompe disease. Prenatal diagnosis and carrier testing via enzyme analysis are not available.|
|Methodology||Assays will employ a 4-methylumbelliferyl substrate.|
|Specimen Requirements||Enzyme activity can be measured in leukocytes or cultured fibroblasts.|
|Transport||Please contact the laboratory before transporting tissue for enzyme assay. Fresh tissue for culture should be sent by courier or 24-hour delivery. Blood should be collected in a sodium heparin tube and shipped overnight.|
|Turnaround time||14 days
Cell culture can take 1-4 weeks and may lengthen turnaround time.
The Biochemical Lab provides diagnostic and screening tests for a variety of inherited metabolic disorders.