Hurler Syndrome Disease

pitcherful Syndrome Diseasepitcherfuls SyndromeIn a persons personify each substance is important and should present the right amount of itself to function properly. In this case a very r be inherited sickness of metamorphosis is when a person can non break down large chains of saccharify molecules called glycosaminoglycans. This distemper is known as Hurlers Syndrome which is part of a larger congregation of maladys more comm however referred to as MPS. Other names for Hurlers Syndrome ar alpha-L-iduronate, Mucopolysaccharidoss sign 1, and MPS1H. Other MPS diseases are Hurler Scheie Syndrome, which is a milder feature of Hurler Syndrome, Maroteaux-Lamy Syndrome, whose features are very similar to Hurler Syndrome and Sly Syndrome, whose phe nonype is similar to that of Hurler Syndrome. Unfortunately, there are m all more syndromes within the MPS disease category.Hurlers Syndrome is named after Gertrud Hurler, who was the doctor that described both a boy and a girl with th e condition in 1919. Dr. Scheie was a consultant ophthalmologist and in 1962 he wrote about some of his patients who were less weightyly affected than those previously diagnosed by Dr. Hurler. Those patients who could non be clearly diagnosed as either the severe or milder end of the disease were said to pay off Hurler Scheie Syndrome.When you shoot Hurlers Syndrome, your body does not make a substance called lysosomal alpha-L-iduronidase. This means that a person without lysosomal alpha-L-iduronidase cannot break down long chains of sugar molecules which are used in the building of connective tissues in the body. The sugar molecules are unremarkably found in mucus and in fluid some a persons joints.There is a continuous process in the body of replacing used materials and breaking them down for disposal. What does break down long chains of sugar molecules is a substance called alpha-L-iduronidase enzyme. This is essential in gaffe up the mucopolysaccharides called dermatan a nd heparin sulphate. The incompletely broken down mucopolysaccharides remain stored in cells in the body causing progressive damage. A result of not having the alpha-L-iduronidase enzyme is that glycosaminoglycans will build up and damage a persons tenderness and variety meat. Symptoms of this disease can be mild or very severe.Hurlers Syndrome is a disease inherited from both parents which means that both parents train to pass the gene to their churl in order for the child to keep back the disease and whatsoever child of any race can have it. When a child is born you cannot really allege that they have the disease because they appear goodish at birth. Babies may show little sign of the disease, but as more and more cells become damaged, symptoms start to appear. Most of the symptoms are slow coarse facial features with low nasal bridge, halted growth, progressive mental retardation, waterlogged corneas, deafness, joint disease including stiffness, heart valve problems, abnormal bones in the spine, continuing runny nose, hernia, speech problems, hyper activity, depression, pain, and clawed hands. Most wad do not notice the facial symptoms until the child is at the age of two. To tell if a person has Hurlers Syndrome, doctors usually do a simple urine turn up. The test would show extra mucopolysaccharides, but doctors would not be able to tell what form of MPS that the person has. Thus, Hurlers Syndrome is not diagnosed until many other conditions have been looked into and after which more specific tests have been performed. This is usually done when the child is about six to twenty-four months of age.To treat Hurlers Syndrome, a person would have to have enzyme replacement cognitive process which helps the body make alpha-L-iduronidase or have a bone marrow transplant to prevent retardation and that only improves some of the symptoms and should be done at a very unripened age. Scientists state that it is better for a child with the disease to have this surgical operation at a young age because they will have a better go on of living longer. A person can similarly have a stem cell transplant surgery and if this surgery is successful many symptoms of the disease are stopped. Seventy-five percent of those whose transplants are from siblings or other close family members have a higher order of survival than those whose donors are not as closely matched. Many children with a heart disease caused by Hurlers Syndrome cannot have these surgeries due to the fact that their heart is not strong enough to help recover after any surgery. Any other treatments that can treat Hurlers Syndrome depend on the organs which are all infected. For those children whose diagnosis came too late in the procession of the disease to be eligible for transplant, there is still some desire in a newly approved enzyme replacement therapy.Young children with Hurlers Syndrome usually end up with nervous system problems and will have the chance of dyi ng at a young age. Experts say that couples with the history of Hurlers Syndrome in their family or any other disease should be tested before they think about having children of their own.Today there is no actual reanimate for Hurlers Syndrome, but the MPS society is working very hard to light upon a cure for it. About 1 in 160 people are carriers, which result in about a 1 in 25,000 chance of two carriers meeting. Since this disease is so rare the chance of having a partner who is another carrier is very slight provided their partner is not a cousin or other close family member. Since Hurlers Syndrome is a recessive gene there are only 1 in 4 chances that a child will suffer this disease if their parents are carriers. In this case 1 out of 100,000 children are affected with this rare disease. The immune children have a 2 in 3 chance of universe carriers like their parents, and a 1 in 3 chance of existence a normal non-carrier.The oldest survivor of Hurlers Syndrome is curren tly in his early twenties and is standing strong, however, most people affected with this disease do not live past the age of twelve.