Alpha Glucosidase (Glycogen Storage Disease 2 - Pompe's Disease) - Price, Normal Range | Sprint Diagnostics Hyderabad

An Alpha Glucosidase test is primarily performed to diagnose Pompe's disease, a rare genetic disorder caused by a deficiency of this enzyme. The disorder leads to the accumulation of glycogen in various parts of the body, particularly in the heart and skeletal muscles, which can affect normal functioning.

The test is performed on a sample of blood, typically drawn from a vein in the arm. The sample is then sent to a laboratory where the enzyme activity is measured.

A healthcare provider might order this test if a patient exhibits symptoms of Pompe's disease. Symptoms can include muscle weakness, breathing problems, and difficulty feeding in infants. In older children and adults, the symptoms may also include muscle weakness and breathing problems, but these symptoms progress more slowly.

Results of the Alpha Glucosidase test are reported in units per liter (U/L). Lower-than-normal levels of Alpha Glucosidase may suggest Pompe's disease. However, diagnosis is typically confirmed with molecular genetic testing that can identify the specific mutation in the GAA gene, which codes for the Alpha Glucosidase enzyme.

Low levels of Alpha Glucosidase in the blood may suggest Pompe's disease. This rare genetic disorder leads to a buildup of glycogen in various parts of the body, causing a range of symptoms from muscle weakness to respiratory difficulties.

Certain medications, health conditions, and dietary factors can affect the levels of Alpha Glucosidase in the blood. It's important to inform your healthcare provider of any medications you are taking, as well as any recent illnesses or medical conditions.

The risks associated with the Alpha Glucosidase test are minimal and are similar to those of any routine blood draw. This can include slight pain or bruising at the site where the needle was inserted.

Typically, no special preparation is needed for an Alpha Glucosidase test. However, always follow any specific instructions provided by your healthcare provider.

The turnaround time for the Alpha Glucosidase test is typically 7-10 days. However, this can vary depending on the laboratory.

While low levels of Alpha Glucosidase can suggest Pompe's disease, a definitive diagnosis usually requires genetic testing to identify mutations in the GAA gene, which codes for the enzyme.

Treatment for Pompe's disease focuses on managing symptoms and preventing complications. This can include enzyme replacement therapy, which provides the body with a form of the enzyme it is missing. Physical and respiratory therapy can also be beneficial. In severe cases, a ventilator may be needed to assist with breathing.

People with symptoms suggestive of Pompe's disease or those with a known family history of the condition may benefit from testing. However, this test is not typically included in routine screening due to the rarity of the condition.

This test is also known as an Acid Alpha-Glucosidase test, Acid Maltase test, or simply a Pompe disease test.

As of now, there is no known cure for Pompe's disease. Treatment focuses on managing symptoms, reducing complications, and improving the quality of life for affected individuals. Ongoing research continues to explore potential new treatments for this rare genetic condition.