Mucopolysaccharidosis, type II digital illustration

Mucopolysaccharidosis, type II Save

ICD-10 code: E76.1

Chapter: Endocrine, nutritional and metabolic diseases

Mucopolysaccharidosis, type II: Understanding the Rare Inherited Disorder

Mucopolysaccharidosis, type II (MPS II) is a rare genetic disorder that affects the body's ability to break down and recycle certain complex sugars called glycosaminoglycans (GAGs). This condition is also known as Hunter syndrome, named after the physician who first described it in 1917. MPS II is an X-linked recessive disorder, which means that it primarily affects males.

  1. Causes of MPS II
  2. MPS II is caused by a deficiency of the enzyme iduronate-2-sulfatase (I2S). This enzyme is responsible for breaking down certain GAGs in the body. When I2S is missing or not working properly, GAGs build up in the body's cells and tissues, leading to a range of symptoms.

  3. Symptoms of MPS II
  4. The symptoms of MPS II can vary widely in severity and can affect different parts of the body. Some common symptoms include:

    • Facial dysmorphism (abnormal facial features)
    • Joint stiffness and limited mobility
    • Enlarged liver and spleen
    • Heart disease
    • Respiratory problems
    • Cognitive impairment
    • Hearing loss
  5. Treatment and Management of MPS II
  6. There is no cure for MPS II, but there are treatments available to help manage the symptoms of the condition. Enzyme replacement therapy (ERT) is a treatment that involves infusing the missing enzyme into the bloodstream. This can help reduce the buildup of GAGs and improve some of the symptoms of MPS II. Other treatments may include surgery, physical therapy, and medications to manage specific symptoms.

  7. Living with MPS II
  8. Living with MPS II can be challenging, but there are resources available to help individuals and families affected by the condition. Support groups and advocacy organizations can provide information, resources, and emotional support. Early diagnosis and treatment can also help improve outcomes for individuals with MPS II.

In conclusion, MPS II is a rare genetic disorder that can have a significant impact on an individual's health and quality of life. While there is no cure for the condition, treatments are available to help manage symptoms and improve outcomes. With early diagnosis and appropriate management, individuals with MPS II can lead fulfilling lives.

Diagnosis Codes for Mucopolysaccharidosis, type II | E76.1