Pompe Disease (Glycogen Storage Disease Type II),
Enzyme Analysis
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.
The measurement of enzyme activity of alpha
glucosidase is available from the Metabolic Laboratory of the Greenwood Genetic
Center.
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.
Standard of analysis:
Assays will employ a 4-methylumbelliferyl substrate.
Time required:
Most assays will be complete in one week; assays of cultured cells may take 3-4
weeks.
Special requests:
Any type of special request must be made directly with the laboratory.
Report:
Written reports with interpretation are mailed to the referring physician.
Abnormal results will also be telephoned to the referring physician.
CPT Code:
82657
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