ask our doctors


Get the facts on Mucopolysaccharidoses treatment, diagnosis, staging, causes, types, symptoms. Information and current news about clinical trials and trial-related data, Mucopolysaccharidoses prevention, screening, research, statistics and other Mucopolysaccharidoses related topics. We answer all your qestions about Mucopolysaccharidoses.

Question: Looking for information on a congenital genetic based disease called mucopolysaccharidoses. Need urgent HELP!? 1 in 25 million couples produce kids with this disease. Usually they are born retarded or deveopmentally difficient,suffer dwarfism, deformed bones, abnormally hairy, hearing and sinus problems, abnormally large internal organs such as liver and spleen. I'm told there isn't much research on this disease because most patients die before their 20th birthday. I've been searching since Jan 16th for more on this disease with no luck. Need published material, web sites, support groups, even a definition of what this disease actually is. One, and possibly 2 of my 5 children are suspected of having this desease - further genetic testing is being scheduled to confirm diagnosis. There is, however, something unique occurring in my kids in that they aren't mentally retarded. In fact, our 4 yr old reads & knows numbers into the thousands, despite severe hearing loss appears. He also appears to be growing normally size-wise and his bone structure ok - except for the asymmetrical shape of his head.

Answer: Mucopolysaccharidosis with excessive chondroitin sulfate B in urine, characterized by dwarfism and deafness. It is caused by a deficiency of N-acetylgalactosamine-4-sulfatase (arylsulfatase B). I did a search on comcast and found one pdf file in english (7th one down). I can't open on my computer, maybe it will work for you.…

Mucopolysaccharidoses News