Hunter Disease (MPS II) - A metabolic disorder

Hunter disease is also known as MPS Type II. There are two subtypes also, MPS II A and MPS II B. It is a mucopolysaccharide disease. It was in 1917 that the disease was found and it is named after Charles Hunter who diagnosed the disease. It is a metabolic disorder that occurs due to lack of glycosaminoglycans, or mucopolysaccharides molecules. It occurs mostly in baby boy than baby girls at the age of two.

Symptoms

Growth delays, joint stiffness, abrade facial features. The patient might experience cardiac problems, neurological problems, enlargement of spleen and liver etc. Premature death may occur in severe cases.

Causes

Our body needs to break down some molecules called glycosaminoglycans, or mucopolysaccharides. These molecules are to be broken down and when they are lacking or does not exist the breaking down process will not occur. Then these molecules will develop in some cells affecting mental development, physical abilities, appearance problems etc. This occurs due to inadequate production of iduronate sulfatase enzyme, necessary to break complex sugar in body. It is a hereditary metabolic disease. Deficiency or improper functioning of lyzome causing accumulation of some complex carbohydrates in some tissues like brain, heart etc is the cause of Hunter Disease.

Treatment

There is no cure for this disease, but enzyme replacement therapy might be helpful. In most cases symptoms are treated. Respiratory system might get affected and hence respiratory care is very important. Breathing devices can help the patient from having trouble. High blood pressure, valve leakage and other cardiac problems are to be considered and cured. Skeletal and connective tissue problems must be properly examined. Through physical therapy declining mobility can be controlled for some time or speed of its progression can be reduced. If there is hernia it can be removed through surgery.

Fluid and tissues are likely to be developed around brain and spinal cord. Operation can be done but it is not a final cure and it is difficult to treat such areas. Anticonvulsant medicines are given in case of seizures. It is better not to treat children for behavioral problem because most medicines have negative effect. Sleep issues can be controlled with sedatives like melatonin.

Some treatments like bone marrow transplantation are in testing stage and is found to reduce the growth speed of disease. This treatment reduces the problems of mobility, heart, spleen and liver, respiratory problems etc.

Yet another treatment is cord blood transplantation in which umbilical cord blood collected from an unrelated donor is transplanted to patient using an IV. This helps to recover enzyme activity. This can reduce problems with hearing, joint mobility etc. Another one is enzyme therapy in which man made enzymes are injected to patients blood stream directly. Thus defective enzymes are replaced and the patients treated with enzymes regained the ability to walk in a year or with treatment for few weeks. Elaprase is a medicine approved which slows down the progress of disease. All these are being tested and is not yet declared as perfect medicine for the disease.

Links


http://www.mpssociety.co.uk/hunter.htm


http://www.news-medical.net/?id=19488


http://cat.inist.fr/?aModele=afficheN&cpsidt=14678178


http://www.nlm.nih.gov/medlineplus/ency/article/001203.htm


http://rarediseases.about.com/cs/huntersyndrome/a/022204.htm


http://www.bio-medicine.org/medicine-news/Idursulfase-Is-Effective-Treatment-for-Hunter-Syndrome-13312-1/


http://www.mayoclinic.com/health/hunter-syndrome/DS00790/DSECTION=7


http://www.bchealthguide.org/kbase/nord/nord282.htm


http://www.hunterpatients.com/about/signs/


http://www.sciencedaily.com/releases/2006/08/060819115541.htm