Hurler S Syndrome

Hurler syndrome is a hereditary disease from the group of lysosomal storage diseases that is associated with a deficiency of the enzyme alpha-L-iduronidase. It manifests itself as mental retardation and disproportionate growth, as well as other symptoms such as enlarged liver and spleen, heart defects and bone deformities. Treatment for Hurler syndrome involves taking medications that help reduce the accumulation of pathological substances in the body.

Hurler syndrome is a rare inherited disorder caused by a deficiency of alpha-L-iduronidase, which is essential for the digestion of glycosaminoglycans (GAGs) in tissues. The syndrome is characterized by a multisymptomatic, severe course and an anomaly

Hurler syndrome is a recessive hereditary disease that affects several organs and systems of the body. This rare disease causes a buildup of proteins and carbohydrates due to the body's reduced ability to break them down. The pathology affects several systems, in particular, it can cause growth problems, developmental delays, damage to the teeth, heart, liver and stomach.

Humans have a defective gene called the "sweetness gene" which is located on chromosome 21. This gene encodes the enzyme type I lysosomal hydrolase (elastase), a protein responsible for the breakdown of polysaccharides such as glycosaminoglycans in the body. If the body cannot properly break down the glycolipids associated with Hurler's disease, the result is an accumulation of these substances.

As a result of insufficient destructive ability of the sweetener gene, various complications arise that can significantly affect human health. For example, Hurler syndrome is characterized by severe developmental delay in children, poor growth, and disproportionate distribution of body fat. The disease manifests itself as skeletal abnormalities, heart problems, changes in the structure of the skin, teeth and jaws, as well as problems with digestion and nutrition. Facial changes such as puffy cheeks, a large tongue, a wide nose and a long, curvy chin are typical