Mucopolysaccharides (MPS) Type-I/ Hurler's Disease (quantitative) - Blood

The MPS Type-I blood test is performed using a sample of the patient's blood. The blood sample is drawn from a vein in the arm, which is then sent to a laboratory for analysis.

An abnormal MPS Type-I blood test result indicates the presence of a higher than normal amount of specific GAGs in the blood. This is suggestive of MPS I. However, additional testing, such as genetic testing or enzyme activity testing, is usually required to confirm the diagnosis.

While there is no cure for MPS I, treatment options are available that can help manage symptoms and slow disease progression. These may include enzyme replacement therapy, hematopoietic stem cell transplant, and various supportive treatments to manage symptoms.

Yes, MPS I is an inherited genetic disorder. It is passed down in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for a child to be affected.

As a genetic disorder, MPS I cannot be prevented. However, genetic counseling can provide valuable information for prospective parents who have a family history of MPS or are known carriers of the disorder.

MPS I is a rare disorder. It is estimated to occur in approximately 1 in 100,000 to 1 in 150,000 newborns worldwide.

While MPS I is typically diagnosed in infancy or early childhood, milder forms of the condition may not become apparent until later in life. In these cases, diagnosis in adults is possible.

MPS I can lead to a variety of complications, depending on the severity of the disease. These may include developmental delay, organ damage, skeletal deformities, vision and hearing loss, and cardiovascular problems.

Management of MPS I involves a multidisciplinary approach with a team of healthcare professionals. This may include enzyme replacement therapy or hematopoietic stem cell transplant, along with supportive therapies to manage specific symptoms, such as physical therapy, occupational therapy, and speech therapy.

Currently, there is no cure for MPS I. However, research is ongoing to find new treatments and potentially a cure for this condition.

The prognosis for MPS I varies depending on the specific form of the disorder. With early diagnosis and treatment, individuals with milder forms of the disorder can live well into adulthood, while those with severe forms may have significantly shortened lifespans.

Yes, there are several organizations and support groups available for families affected by MPS I. These groups can provide valuable resources and support for coping with the physical, emotional, and financial challenges of managing MPS I.

No, carriers of MPS I do not typically exhibit symptoms of the disorder. However, they have a 25% chance of passing the disorder to each of their children if their partner is also a carrier.

Genetic counseling can provide families with important information about MPS I, including the risk of recurrence in future pregnancies and available options for prenatal testing. A genetic counselor can also provide support and resources to help families navigate the complexities of living with a genetic disorder.