Pompe Disease Enzyme Assay Blood

This test measures the activity of alpha glucosidase in your blood.

The Pompe Disease Enzyme Assay Blood is mainly done to monitor alpha glucosidase levels and detect Pompe disease, a rare genetic disorder characterised by a deficiency of alpha glucosidase. It helps confirm the diagnosis and assess the severity of the disease.

Your doctor may recommend this test if you have symptoms suggestive of Pompe disease, such as muscle weakness, respiratory problems, or heart abnormalities. It is also recommended for individuals with a family history of Pompe disease or those who are at risk due to consanguineous marriages.

Abnormal results indicating a deficiency of alpha glucosidase and low enzyme activity may suggest a diagnosis of Pompe disease. However, further confirmatory tests and evaluation by a specialist are required for a definitive diagnosis.

This test involves drawing a small sample of blood from a vein in your arm. You may feel a slight pinch as the needle is inserted, but the procedure is generally quick and painless.

Fasting is not required before this test. Inform your doctor about any medications or supplements you are taking as they may interfere with the test results. Avoid strenuous physical activity or exercise before the test. Please reach out to your healthcare provider for any specific requirements.

Other tests that may be ordered alongside the Pompe Disease Enzyme Assay Blood include:

• Genetic Testing: This test helps identify specific gene mutations associated with Pompe Disease.
• Muscle Biopsy: A small sample of muscle tissue is taken to examine the presence of glycogen accumulation and assess enzyme activity.

Alpha Glucosidase Activity Assay Blood, Acid Maltase Deficiency Test

Pompe disease is a rare inherited disorder caused by a deficiency of alpha glucosidase, an enzyme responsible for breaking down glycogen. It leads to the accumulation of glycogen in various tissues and organs, causing muscle weakness, respiratory problems, and heart abnormalities.