Q: Which doctor should I consult for Mucopolysaccharidosis?
A: You can consult a general physician or family doctor to detect Mucopolysaccharidosis.
Q: If both parents carry a copy of the defective gene for MPS what are the chances of a normal conception?
A: The offspring of carrier parents has a one in four chance of inheriting the disease form of MPS. In this case, it is best to go for pre-natal testing. This is done through a procedure called CVS (chorion villi sampling) which will confirm if the fetus has MPS or not. In the case of MPS II, if the mother has the defective gene, it will surely pass on to her son. If she has a daughter, the daughter could be completely normal or could be a carrier of the gene, where she will not manifest any of the symptoms.
Q: Is there a permanent cure for MPS?
A: At present, there is no permanent cure for MPS. The best option is symptomatic clinical management and rehabilitation.
Q: How can MPS be prevented?
A: Genetic counselling is essential for those who are suspected carriers or those who have a family history of genetic disorders like MPS to prevent transfer of the defective gene to the offspring. Pre-natal testing is also useful if the parents are confirmed to be carriers.
