Alpha Iduronidase (Hurler - MPS 1) - Price, Normal Range | Sprint Diagnostics Hyderabad
Patient Preparing : No specific patient preparation is typically needed for this test. However, always follow the specific instructions provided by your healthcare provider.
Alpha Iduronidase is an enzyme that plays a crucial role in the breakdown and recycling of long chain sugar molecules called glycosaminoglycans (GAGs). A deficiency in this enzyme leads to a rare genetic disorder known as Mucopolysaccharidosis Type I (MPS I) or Hurler syndrome.
|Alpha Iduronidase (Hurler / MPS I)
|Blood or Tissue sample
|No specific patient preparation is typically needed for this test. However, always follow the specific instructions provided by your healthcare provider.
|Price in Hyderabad
What is Alpha Iduronidase?
Alpha Iduronidase is an enzyme produced by the body to break down glycosaminoglycans (GAGs), specifically dermatan sulfate and heparan sulfate. These complex sugar molecules are involved in various bodily functions, including cell signaling and maintaining the structure of tissues.
Why is an Alpha Iduronidase test performed?
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.
Home Sample Collection
How is the Alpha Iduronidase test performed?
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.
When might a healthcare provider order an Alpha Iduronidase test?
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.
How are the test results interpreted?
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.
What does it mean if Alpha Iduronidase activity is low?
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.
What factors can affect the test results?
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.
Are there any risks associated with this test?
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.
How can I prepare for the test?
No special preparation is typically needed for an Alpha Iduronidase test. However, always follow any specific instructions provided by your healthcare provider.
When will I receive the test results?
The turnaround time for the Alpha Iduronidase test is typically 7-14 days. However, this can vary depending on the laboratory.
Can Alpha Iduronidase test results confirm a diagnosis of Hurler syndrome?
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.
What treatment options are available for Hurler syndrome?
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.
Who should get tested for Alpha Iduronidase levels?
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.
Are there any other names for this test?
This test is also known as an MPS I test, or a Hurler syndrome test.
Is there a cure for Hurler syndrome?
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.
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