Hurlers Syndrome
... Many people are unfamiliar with Hurler’s Syndrome. ... Hurler’s Syndrome is so destructive that most victims do not usually live beyond their early teens. With Hurler’s Syndrome, there is basically a defect in the degeneration of the substance mucopolysaccharide, an essential part of the supportive tissue in skin, bone and cartilage. ... html) Mucopolysaccharide is usually broken down during the process of growth and development, unfortunately this is not the case with children who have Hurler’s Syndrome. The following paragraphs explore the affected gene and protein of Hurler’s Syndrome, the effect the missing protein has on cell metabolism, how people with Hurler’s Syndrome cope with the disease and the medical status of Hurler’s Syndrome. Ultimately, the following essay will explore the depths of this rare genetic disease, helping you to better understand Hurler’s Syndrome. Hurler’s Syndrome is an rare autosomal recessive disease. ... html) This means that an individual must receive a recessive trait for Hurler’s Syndrome from each parent. ... The gene for Hurler’s Syndrome is located on chromosome 4 of the human genome. The genetic mutation in DNA that results in the defective gene causing Hurler’s Syndrome, is referred to as a nonsense or “stop” mutation of the essential enzyme iduronidase. ... html) This is why Hurler’s Syndrome is referred to as a storage disease. ... When a child has Hurler’s Syndrome they may appear normal up to about one year of life. ... However, all children with Hurler’s Syndrome look alike. ... html) A noticeable and distinctive symptom of Hurler’s Syndrome is clouding of the cornea. ... Unfortunately no consumption of certain foods can change the way Hurler’s Syndrome is destructing their bodies. ... htm) Hurler children usually need assistance in school and because of the decline of normal function in children with Hurler’s syndrome, the goals for the children should be reasonable both in school and other everyday activities. ... Living with a devastating disease such as Hurler’s Syndrome affects both the individual with the disease and the family of the individual. ... They are thought to be inferior to those that do not suffer from Hurler’s Syndrome. ... htm) Children with Hurler’s Syndrome may not be diagnosed until they reach six to twelve months of age. ... If the levels of mucopolysaccharide are more than standard levels, initial diagnosis of Hurler’s Syndrome can generally be met. ... HTM) However, there have been reported problems concerning the reliability and accuracy of urinary screening, so many professionals run further tests to reach a definitive diagnosis of Hurler’s Syndrome. ... htm) It is quite evident that Hurler’s Syndrome is a very destructive disease. ... htm) More benefitting news towards Hurler’s Syndrome is the drug Aldurazyme, which replaces the missing enzyme in the disorder. ... htm) Aldurazyme is the first drug towards treating Hurler’s Syndrome, and is currently undergoing clinical trials.