Mucopolysaccharidosis, type II Save

Mucopolysaccharidosis, type II

Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a rare genetic disorder that affects the body's ability to break down and recycle certain complex sugars known as glycosaminoglycans (GAGs).

Individuals with MPS II are born with a deficiency in an enzyme called iduronate-2-sulfatase (I2S), which is responsible for breaking down and recycling GAGs. This leads to an accumulation of GAGs in various tissues and organs throughout the body, causing progressive damage and dysfunction.

MPS II is an X-linked disorder, which means that it primarily affects males. Females can also be affected, but the condition tends to be milder in females.

Symptoms of MPS II

The symptoms of MPS II can vary widely depending on the severity of the condition and the age of onset. Some common symptoms of MPS II include:

1. Facial features that are coarse or "gargoyle-like"
2. Enlarged liver and spleen
3. Joint stiffness and limited mobility
4. Delayed development and intellectual disability
5. Abnormal bone growth and skeletal deformities
6. Cardiovascular problems

Diagnosis of MPS II

MPS II can be diagnosed through a combination of clinical evaluation, genetic testing, and biochemical testing. A healthcare provider may suspect MPS II based on the presence of characteristic symptoms and may order further testing to confirm the diagnosis.

Treatment of MPS II

Currently, there is no cure for MPS II. Treatment options are focused on managing symptoms and improving quality of life. These may include enzyme replacement therapy, bone marrow transplantation, and supportive care for complications such as respiratory and cardiovascular problems.

Conclusion

MPS II is a rare genetic disorder that can cause a variety of symptoms and complications. While there is currently no cure for MPS II, early diagnosis and management can help individuals with the condition live longer, healthier lives.