What is mucopolysaccharidosis?

mucopolysaccharidosis is a collection of metabolic disorders that arise when mucopolysaccharides cannot disassemble, causing a disorder in the production of a particular gene. This results in abnormality of specific enzymes. Mucopolysaccharridosis includes disorders such as Hurler's, Hunter's Maroteaux-Lamy and Sanfilippo syndromes. It also includes Morquion, Sly and Scheie syndromes. Such metabolic disorders affect an average of one child in every 10,000 and usually result in death before the child becomes an adult. Mucopolysaccharides are sugar molecules that look like long chains under a microscope and are used throughout the body to create connective tissue. Many body structures are held together by connective tissue, making it the most abundant and necessary tissue in the body. Mukopolysacicharidosis includes a defect in gene production to develop mucopolysaccharidosis is involved in metabolism or processing of mucopolysaccharides, resulting in the accumulation of these molecules.

. These include heparan sulfate, dermatan sulfate or keratan sulfate. If there is a problem with the processing of one of these mucopolysaccharides, the enzymes that are associated with these metabolic paths could be associated with abnormality.

Every syndrome has its own properties, depending on which specific enzyme or combination of enzymes is influenced by a defective gene. Hurler's syndrome, also known as gargoylism, is the most common form of mucopolysaccharidosis and occurs when there is a lack of alpha-l-iduronidase enzyme. Hurler's syndrome is characterized by retardation of growth, distorted facial features, shortcomings in mental functioning, deafness, stiff joining and chest deformities. It is also characterized by enlargement of the liver and spleen and corneal deficit that affects the functioning of the eyes.

Mucopolysaccharidosis disorders are progressive and result in both physical and structural deformities. Each fault has different levelsViants and symptoms usually begin to appear after 2 years of the child. Children with any form of this disorder will usually live for no more than 20 years. In most cases, children will not reach their adolescents.

The diagnosis is made after testing the enzyme deficiencies involved in metabolic pathways and after examining whether the accumulation of polysaccharides in connective tissue is accumulated. There is no medicine for mucopolysaccharidosis. Treatment included bone marrow transplantation in an effort to restore insufficient enzymes, but that was a little success. To improve the diagnosis and detection of whether parents are wearer for the difference, more attention was paid to the patronage of features.