Mucopolysaccharidosis
Mucopolysaccharidosis (MPS) is a group of inherited disorders caused by the body's inability to break down certain long chains of sugar molecules called glycosaminoglycans. This leads to an accumulation of these substances in various tissues, resulting in a range of health problems. Symptoms can vary widely but often include skeletal abnormalities, joint stiffness, and organ enlargement.
There are several types of MPS, each linked to a specific enzyme deficiency. Diagnosis typically involves genetic testing and enzyme assays. Treatment options may include enzyme replacement therapy, supportive care, and in some cases, bone marrow transplantation to help manage symptoms and improve quality of life.