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
Diagnosis typically involves a combination of clinical examination, urine tests to measure GAG levels, and enzyme