mukopolüsahharidoosideks

Mucopolysaccharidoses (MPS) are a group of rare genetic disorders characterized by the body's inability to break down or process certain complex carbohydrates called glycosaminoglycans (GAGs). These GAGs, also known as mucopolysaccharides, are long chains of sugar molecules that are components of connective tissues, bones, cartilage, and skin. When they are not properly broken down, they accumulate in cells, tissues, and organs throughout the body, leading to progressive damage.

There are several types of MPS, each caused by a deficiency in a specific enzyme. The symptoms vary widely depending on the type and severity of the enzyme deficiency, but common manifestations include skeletal abnormalities, coarse facial features, joint stiffness, heart valve disease, respiratory problems, and intellectual disability. Some forms of MPS are severe and present in infancy, while others are milder and may not become apparent until later in childhood or even adulthood.

Diagnosis typically involves a combination of clinical examination, urine tests to measure GAG levels, and enzyme assays to identify the specific deficient enzyme. Treatment for MPS is largely supportive, focusing on managing symptoms and improving quality of life. Enzyme replacement therapy (ERT) is available for some types of MPS and can help reduce GAG accumulation. Hematopoietic stem cell transplantation (HSCT) is another treatment option for certain severe forms. Research continues to explore new therapeutic approaches for these complex conditions.