Mucopolysaccharide diseases affect not many people. It is a rare disease and a particular enzyme is responsible for this disease. It is a life-threatening disease. The disease is also known as lysosomal storage disease. The deficiency of a particular enzyme is actually responsible for this disease.
When this disease affects a person his/her body is unable to break down the chemicals and the waste products of the body. It is even unable to revive those essential products that have stopped functioning. As a result the waste products cannot be flushed out of the body and they go on getting stored within the cells in tiny parts. These are then known as lysosomes.
The diseases that can be included in the mucopolysaccharide disease are Hurler syndrome, Pompe disease, Hurler-Scheie syndrome, Scheie syndrome, Maroteaux Lamy syndrome, Hunter syndrome and Morquio syndrome. The diseases that have similarity with mucopolysaccharide disease are mannosidosis, fucosidosis, mucolipidosis (types I, II, III and IV), sialidosis, sialic acid disease, Winchester syndrome, multiple sulphate deficiency and Fabry's disease.
Symptoms of Mucopolysaccharide Disease
Thediseases sometimes result in death when the afflicted person is still a child. The symptoms tend to differ as per the as per the condition. Some diseases are only for a limited period of time while some are quite fatal. The mucopolysaccharide disease hampers the perfect growth of the body.
The body organs are unable to function properly which might lead to mental or physical disruption. In most of the cases it has been seen that the mental health of the person is affected. These diseases do not allow a person to live beyond one’s childhood. Death is sure in the childhood stage. Out of the 25,000 babies born who are born in U.K. one child suffers from this rare disorder. Most of the above mentioned disorders are inherited and has no preference for any of the sex.
The hunter disease is passed from the mother to the male child but in some rare cases the hunter disease also affects the female child. In the case of Fabry disease it is passed on from the father to the daughter and if the man has two sons then it will be passed on to one of them. Females have less chance of passing on this disorder to their sons.
So we can say that the mucopolysaccharide disease can be found in either of the sex. The children suffering from this disorder have similar clinical features but the degree might tend to vary. In some cases it might be extremely severe. Initially the growth and the development is normal but somewhere down the line the decline sets in. Both the mental and the physical functioning get disturbed.
Treatment for Mucopolysaccharide Disease
There is no cure for mucopolysaccharide disease but Hurler Scheie and Fabry disease can be treated with the help of enzyme replacement therapy. This therapy might prove to be a great hope for people suffering from Maroteaux Lamy and Hunter syndrome. But the therapy is possible if the patient has no neurological deterioration. Bone marrow transplantation is another option that might prove helpful for those babies ho are suffering from Hurler syndrome.
In some cases prenatal diagnosis is possible during the 12 or 14 weeks of pregnancy. There is no cure available for the other diseases. Care is being taken to treat the symptoms so that there is some improvement in the life style and they are able to live life to the maximum with minimum discomfort.
As the people who suffer from mucopolysaccharide disease have joint problems daily physical exercises are necessary to give them some comfort. It also improves their ability to move.
Some of them might suffer from tonsils and removal of tonsils sometimes provides them with much relief. Their breathing condition is improved. With the help of surgery the excessive waste products can be taken out of the body and the nerves can be freed. Transplantation of the cornea helps in improving their vision. There is hardly any drug, which might give total comfort to the patient.
