mucopolysaccharidose

Mucopolysaccharidosis, often abbreviated as MPS, refers to a group of rare genetic disorders. These conditions are characterized by the body's inability to properly break down complex sugar molecules called glycosaminoglycans, also known as mucopolysaccharides. These substances are essential components of connective tissues, including cartilage, bone, skin, and blood vessels. When they cannot be broken down, they accumulate in cells throughout the body, leading to progressive and widespread damage.

The symptoms of MPS can vary greatly depending on the specific type of disorder and its severity. However, common manifestations include skeletal abnormalities such as short stature, joint stiffness, and bone deformities. Other features can include coarse facial features, enlarged organs, heart valve problems, respiratory issues, and intellectual disability. The onset of symptoms can occur in infancy, childhood, or even adulthood.

There are several distinct types of mucopolysaccharidosis, each caused by a deficiency in a different enzyme responsible for breaking down specific glycosaminoglycans. These types are typically designated by Roman numerals, such as MPS I, MPS II, MPS III, and so on. Diagnosis usually involves enzyme assays and genetic testing.

Currently, there is no cure for mucopolysaccharidosis. However, treatments aim to manage symptoms and improve quality of life. These can include enzyme replacement therapy, hematopoietic stem cell transplantation, and supportive care for specific organ systems. Early diagnosis and intervention are crucial for optimizing outcomes.