Alpha Iduronidase (Hurler - MPS 1) - Price, Normal Range | Sprint Diagnostics Hyderabad

The Alpha Iduronidase test is primarily performed to diagnose Hurler syndrome, a genetic disorder that results from a deficiency in this enzyme. The condition causes a buildup of GAGs in various parts of the body, leading to numerous health problems, including developmental delays, skeletal abnormalities, and organ enlargement.

This test is performed on a sample of blood or tissue, typically obtained through a simple blood draw or a skin biopsy. The sample is then sent to a laboratory, where it is analyzed for the presence and activity of the Alpha Iduronidase enzyme.

A healthcare provider may order this test if a patient presents with symptoms suggestive of Hurler syndrome. These can include developmental delays, facial abnormalities, skeletal deformities, organ enlargement, and recurrent respiratory infections.

Results of the Alpha Iduronidase test are reported in units per milligram of protein (U/mg protein). Lower-than-normal activity levels of Alpha Iduronidase may indicate Hurler syndrome. However, additional tests, such as genetic testing, are often required to confirm the diagnosis.

Low Alpha Iduronidase activity suggests that the body is unable to adequately break down GAGs. This can lead to their buildup in various parts of the body, resulting in the range of symptoms seen in Hurler syndrome.

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

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

No special preparation is typically needed for an Alpha Iduronidase test. However, always follow any specific instructions provided by your healthcare provider.

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

While low Alpha Iduronidase activity is suggestive of Hurler syndrome, a definitive diagnosis typically requires genetic testing to identify mutations in the IDUA gene, which codes for this enzyme.

Currently, the primary treatments for Hurler syndrome 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 Hurler syndrome 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 MPS I test, or a Hurler syndrome test.

As of now, there is no known cure for Hurler syndrome. 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.