Mucopolysaccharides (MPS) Typing - 24 hrs Urine

The test requires a 24-hour urine sample. The patient will be given a container to collect all urine produced over a 24-hour period. This sample is then sent to a laboratory, where it will be analyzed for the presence and levels of different GAGs, which can indicate a specific type of MPS.

An abnormal result indicates that the person has one of the MPS disorders. Further testing, possibly including genetic testing or enzyme activity testing, may be needed to confirm the diagnosis and identify the specific type of MPS.

While there is no cure for MPS disorders, treatments are available to help manage symptoms and improve quality of life. These can include enzyme replacement therapy (ERT), hematopoietic stem cell transplant (HSCT), and supportive treatments to manage symptoms.

There are no special preparations needed for the MPS typing test. However, be sure to follow any instructions your healthcare provider gives you about how to collect and store the 24-hour urine sample.

Factors that can affect the results of an MPS typing test include contamination of the urine sample, improper collection or storage of the sample, and certain medications. It's important to discuss any medications or supplements you're taking with your healthcare provider.

Yes, MPS disorders are genetic conditions, which means they are inherited from parents to their children. Most MPS disorders are autosomal recessive, meaning both parents must carry the defective gene for a child to be affected.

As genetic conditions, MPS disorders cannot currently be prevented. However, genetic counseling can provide information to prospective parents who have a family history of MPS or are known carriers of the disorder.

If you suspect an MPS disorder in your child, you should consult with a pediatrician or a geneticist. They can guide you through the diagnostic process, which may include a referral to other specialists, such as a neurologist or a metabolic specialist.

Currently, there is no cure for MPS disorders. However, treatment options are available to manage symptoms and improve the quality of life of affected individuals. Research into potential new therapies, including gene therapy, is ongoing.

Yes, prenatal testing is available if there is a known risk of MPS in the family. This can be done via amniocentesis or chorionic villus sampling (CVS). If you are pregnant and concerned about MPS, discuss these options with your healthcare provider.

Yes, while MPS disorders are typically diagnosed in childhood, in some milder cases, symptoms may not become apparent until adulthood. In such cases, diagnosis in adults is possible and can help guide treatment and management strategies.

Genetic counseling can be very beneficial for families affected by MPS disorders. It can provide valuable information about the risk of recurrence in future pregnancies, available prenatal testing options, and resources for managing the condition.

MPS disorders are rare. The estimated incidence varies depending on the specific type of MPS. For example, MPS I occurs in approximately 1 in 100,000 births, while MPS II, also known as Hunter syndrome, occurs in about 1 in 162,000 births.

Yes, MPS disorders can affect lifespan, with severity and life expectancy varying depending on the specific type of MPS. Some individuals with milder forms of the disorder live well into adulthood, while others with more severe forms may have significantly reduced life expectancy. Treatment can help manage symptoms and potentially improve quality of life and longevity.