Mucopolysaccharidosis Type III

Mucopolysaccharidases type III

*Mucopolysaccharides (or MPS) are a group of inherited metabolic diseases that are caused by impaired synthesis of glycosaminoglycans (GAGs), which leads to their accumulation and damage to many organs and tissues.*

**Sandhafer syndrome** is a rare congenital disorder of the MPS heterogeneity group. With this syndrome, there is an accumulation of various types of glycan-containing complex substances: glycoproteoglycans, dermatan sulfate, heparan sulfates, heparan sulfate and others. This type of syndrome is named after the Swiss scientist who discovered the main mutations responsible for this type of disease. Affected children are born with increased body weight, are developmentally delayed and appear premature. Subsequently, they develop chronic constipation, joint stiffness, poor posture, damage to the nervous system, cardiomyopathy, mental retardation

Mucopolysacchariodosis type III is a hereditary disease from the group of lysosomal diseases (ataxia-telangiectasia, Sandfand syndrome).

Mucopolysaccharasin type I is also found in South Africa, Papua New Guinea and South American Indians, but is much less common elsewhere, affecting 1 in 1,500 children. According to the World Health Organization, the prevalence of the syndrome varies from country to country, but since MPS type 1 is such a rare disease, it is very difficult to give exact figures. Clinical symptoms of MPS I do not have such severe consequences in mental development and the formation of vital systems observed in severe forms of MPS type II. The development of type III MPS is primarily associated with a deficiency of one of the enzymes (sialic acids) in lysosomes, namely α2,6-L-sinanic acid lyase (α2,6LSL). This in turn leads to disruption of the digestion of various substances contained in the skin and tissues. The peripheral nerves are predominantly affected; the vision, hearing, and nutritional systems are also affected. Without treatment, children with MPS lose the ability to move independently, develop moderate to severe mental retardation, become unable to obtain even minimal food rations, and gradually die. Treatment of this disease consists of replacement therapy. Replacement therapy involves the introduction into the body of an artificially created substitute (drug), which forms and deposits (accumulates) an additional amount of lysosomal enzyme necessary for processing substances at the cellular level. When the patient takes it, the excess substance is excreted in the feces. The action of replacing the "extra" enzyme allows for more efficient

Mucopolysaccharidosis (MPS, MPS - mucopolysaccharidoses) is a group of rare hereditary diseases associated with the accumulation of glycosaminoglycans, namely chondroitin sulfate and dermatan sulfate in various tissues and organs of the body. Cholesterol accumulates mainly in the heart muscle, bones, kidneys and central nervous system. In children with a predominance of types III and VI MPS (Hurler, Scheie and Fabry-Neumann syndromes), the use of an enzymatic preparation from porcine hepatopancreas - velaglucerase alfa - is pathogenetically justified for their treatment.

Mucopolysaccharasidoses type III or Sandfer-Schauter syndrome are rare hereditary diseases combined into one clinical group. The pathogenesis is based on disruption of glycosaminoglycan (GAG) metabolism. As a result, a person with Sandfer-Schauter syndrome experiences an increased concentration of sulfated mucopolysaccharides in the tissues, which causes dysfunction of internal organs and systems, leading to a decrease in the patient’s quality and life expectancy. Causes of mucopolysaccharidosis type III (Sandfer-Schouter syndrome) Definition of the disease According to ICD-10, mucopolysaccharidosis type III has code E74.1 (hereditary deficiency of one hexosaminidase). The code for Sanfer-Chaoter syndrome is Q87.3, since the main pathological marker is GAGs. They function in human tissue as high molecular weight polymers that are made up of repeating units called units or monosaccharides. Most of them contain D-galactose, D-glucosamine, N-acetyl-D-galactosan and sulfuric acid. The terminal units are formed by chain branching using glycosyltransferase (glycosylase).

Mucopolysaccharide type III or Sandfilippo syndrome is a genetically determined metabolic disorder caused by a deficiency or absence of activity of the lysosomal hydrolysis enzyme β-galactosidase A. This disease leads to the accumulation in the body of various types of glycosaminoglycans (GAGs) - complex carbohydrates necessary for the development and functioning of all human organ systems. In fact, we are talking about a deficiency of one of the components of the glycosaminoglycan metabolic system in the human body and the development of a severe autoimmune process, when the body’s own cells perceive the defective GAG ​​as a foreign substance (antigen) and begin to attack it, trying to destroy it. The result of this autoimmune response is the formation of pathological changes in all vital organs and tissues: liver, pancreas, skin, muscles, joints, bone marrow.

Mucopolysacchariodosis is a disease associated with metabolic disorders. The disease occurs in both children and adults. Currently, mucopolyssaccharidosis type 3 is treated by introducing a specific monoclonal serum into the patient’s body. With this treatment, the well-being of patients improves, some of them become capable of self-care