Alpha Mannosidase (Lysosomal Storage Disorder) - Price, Normal Range | Sprint Diagnostics Hyderabad

The Alpha Mannosidase test is primarily performed to diagnose Alpha Mannosidosis, a rare genetic disorder that arises due to a deficiency in this enzyme. The lack of sufficient Alpha Mannosidase activity results in the accumulation of sugar molecules in various parts of the body, leading to numerous health problems. These can range from skeletal abnormalities and intellectual disability to weakened immune system and organ dysfunction.

The test is carried out on a blood or tissue sample, typically acquired through a standard blood draw or a skin biopsy. The sample is then sent to a laboratory where the presence and activity of the Alpha Mannosidase enzyme are analyzed.

A healthcare provider may recommend this test if a patient exhibits symptoms suggestive of Alpha Mannosidosis. These may include developmental delays, facial and skeletal abnormalities, hearing loss, recurrent infections, and organ enlargement.

The results of the Alpha Mannosidase test are expressed in units per milligram of protein (U/mg protein). Lower-than-normal activity levels of Alpha Mannosidase may indicate Alpha Mannosidosis. However, to confirm the diagnosis, additional tests, such as genetic testing, are often required.

Low Alpha Mannosidase activity indicates that the body is not efficiently breaking down certain complex sugar molecules, leading to their accumulation in various parts of the body. This buildup is associated with the symptoms seen in Alpha Mannosidosis.

Certain health conditions and medications can potentially affect Alpha Mannosidase activity in the body. Always inform your healthcare provider of any medications you are taking and any known health conditions.

The risks linked to the Alpha Mannosidase test are minimal and are comparable to those associated with any routine blood draw or skin biopsy. These can include slight pain or bruising at the site where the needle was inserted.

No specific preparation is typically required for an Alpha Mannosidase test. However, it's crucial to follow any specific instructions provided by your healthcare provider.

The typical turnaround time for the Alpha Mannosidase test is 7-14 days. However, this can vary depending on the laboratory.

While low Alpha Mannosidase activity is suggestive of Alpha Mannosidosis, a definitive diagnosis usually requires genetic testing to identify mutations in the MAN2B1 gene, which codes for this enzyme.

Currently, the primary treatments for Alpha Mannosidosis include enzyme replacement therapy (ERT), bone marrow transplant (BMT), and symptom management through physical therapy, occupational therapy, and surgeries as required.

Individuals with symptoms suggestive of Alpha Mannosidosis or those with a known family history of the condition should consider getting tested. However, this test is not typically included in routine screening due to the rarity of the condition.

This test is also known as an Alpha Mannosidosis test.

As of now, there is no known cure for Alpha Mannosidosis. 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.