Mucopolysaccharidosis V Type

Hurler syndrome, also known as late mucopolysaccharidosis deficiency (MPS). This is a rare genetic disease that affects a person's connective tissue and causes symptoms such as enlarged joints, kidney and respiratory problems. Treatment for this disease involves taking medications that help regulate the level of mucopolysaccharides in the body.

Causes of Scheie's syndrome It is known that this hereditary disease is associated with impaired fermentation of mucosaccharide chains, the main role of which is the proper metabolism in the human body. Causes include a number of genetic disorders, such as the absence or decreased activity of the enzyme lysosomal alpha-L-iduronidase. Deficiency of alpha-L-iduronidose in the blood is the main symptom of the disease. But not only this affects the occurrence of Hurler syndrome. It can also be facilitated by a deficiency of enzymes involved in the metabolic processes of monosaccharide and polymer molecules. Quite often, the disease is accompanied by the presence of excess weight in children even before birth.