Mannosidosis

Mannosidosis is a hereditary disease that belongs to the group of glycoproteinoses and is caused by a deficiency of lysosomal mannosidase. It is manifested by damage to the nervous and muscular systems, and is inherited as an autosomal recessive type.

Mannosidosis is a group of hereditary diseases that are associated with impaired glycosaminoglycan (GAG) metabolism. These proteins are important components of connective tissue and are involved in the regulation of many body functions. With a lack of lysosomal mannosides, GAGs accumulate in tissues, which leads to various symptoms.

One of the most common types of mannosidosis is Hunter syndrome. It is characterized by damage to the nervous system, muscular dystrophy and other symptoms. Inheritance occurs according to an autosomal recessive mechanism, that is, for the development of the disease, the presence of two defective genes is necessary.

Various methods are used to diagnose mannosidoses, including blood tests, tissue biopsies, and genetic studies. Treatment may include symptomatic therapy and correction of metabolic disorders. However, since the disease is hereditary, its prevention can be achieved through genetic counseling and family planning.

Mannosidosis is a rare hereditary disease that is associated with metabolic disorders in the body. This disease belongs to the group of glycoproteinoses and is caused by a deficiency of lysosomal mannosinase. This disease is inherited through autosomal recessive inheritance.

Clinically, the disease manifests itself as damage to the central nervous system and muscles.