Hurler's Syndrome

In a perfect world there is no such thing as a disease. However, in our world there are several diseases any living thing can be diagnosed with. Some diseases are inherited and passed down through genetics. Mucopolysaccharidosis I, also known as MPS I, is one of the diseases that an offspring will inherit from their parents. This disorder causes many symptoms within the body and has long term effects on the individual. Since MPS I has a wide spectrum of medical issues it is subdivided into three syndromes: Hurler's syndrome, Hurler–Scheie syndrome, and Scheie's syndrome. In this research essay, I will discuss the conditions and treatment of MPS I, the genes that are associated with it, and the inheritance of the disorder. Mucopolyascchadosis

“Patients that suffer from Hurler's syndrome develop numerous medical problems, including progressive developmental delay, cardiac disease, corneal clouding, airway hepatosplenomegaly, obstruction, and severe joint restriction. Also, most of the patients die by the age of 10 years old” (Kakkis, 2001). Children that are diagnosed with Hurler syndrome tend to be normal at birth. Studies have shown that the phenotype of a child with Hurler syndrome at 3 to 6 months of age consist of a “bulky head with swollen frontal bones. The nasal bridge is composed with anteverted nostrils and broad nasal tip. The cheeks are swollen as well, and are very full. The lips are inflated and the mouth is typically open after age 3 years. There is also continuing nasal discharge” (Hamosh, 2015). Hurler syndrome is considered the most sever syndrome of MPS I. Another type of MPS I is Hurler–Scheie syndrome which “have similar medical problems of Hurler syndrome, but the rate of development is slower, they have little or no mental retardation, and they die in their teens or 20s” (Kakkis, 2001). The third syndrome of MPS I is the Scheie's syndrome, which is a less extensive disease and patients have a potentially normal life span (Kakkis,