Beta Mannosidase Blood

The Beta Mannosidase Blood test measures the levels of beta mannosidase in your blood. 

The Beta Mannosidase Blood test is primarily done to diagnose and monitor B Mannosidosis, a rare lysosomal storage disorder. This test helps doctors:

• Confirm a suspected diagnosis of B Mannosidosis
• Monitor the progression of the disease
• Determine the effectiveness of treatment options

Your doctor may recommend the Beta Mannosidase Blood test if you:

• Are experiencing symptoms such as coarse facial features, skeletal abnormalities, and developmental delays
• Have a family history of B Mannosidosis
• Have previously received inconclusive or abnormal test results indicating a potential lysosomal storage disorder

Elevated levels may indicate B Mannosidosis, while decreased levels may suggest a different type of lysosomal storage disorder. 

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

To prepare for the test:

• No fasting or special diet is necessary.
• Inform your doctor about any medications or supplements you are taking, as they may affect the test results.

Please reach out to your healthcare provider for any specific requirements.

Other tests that may be ordered alongside the Beta Mannosidase Blood test include:

• Genetic testing: To confirm the presence of B Mannosidosis and identify specific gene mutations.
• Urine analysis: To assess the presence of abnormal metabolic byproducts associated with lysosomal storage disorders.

Beta-Mannosidosis Blood Test, Blood Beta-Mannosidase Assay

B Mannosidosis is a rare genetic disorder characterised by the deficiency of beta mannosidase enzyme activity. This disorder leads to the accumulation of certain substances within cells, affecting multiple organs and systems in the body.