Morquio B mucopolysaccharidoses digital illustration

Morquio B mucopolysaccharidoses Save

ICD-10 code: E76.211

Disease category: E76.21: Morquio mucopolysaccharidoses

Morquio B Mucopolysaccharidoses: Understanding the Rare Genetic Disorder
Morquio B Mucopolysaccharidoses, also known as MPS IVB, is a rare genetic disorder that affects the body's ability to break down certain types of complex carbohydrates called glycosaminoglycans (GAGs). As a result, these complex carbohydrates accumulate in the body's tissues and organs, causing a wide range of symptoms.
  • Symptoms: The symptoms of MPS IVB can vary depending on the severity of the condition. Some common symptoms include short stature, joint pain, respiratory problems, and vision and hearing impairments. Other symptoms may include heart valve abnormalities, liver and spleen enlargement, and neurological problems.
  • Cause: MPS IVB is caused by a deficiency in the enzyme beta-galactosidase, which is responsible for breaking down GAGs. This enzyme deficiency is caused by a genetic mutation, which is passed down from parents to their children.
  • Diagnosis: Diagnosis of MPS IVB typically involves a physical examination, medical history review, and a series of tests, including blood tests, urine tests, and imaging studies such as X-rays and MRIs.
  • Treatment: Currently, there is no cure for MPS IVB. However, there are treatments available to help manage symptoms and improve quality of life. These may include enzyme replacement therapy, which involves regular infusions of the missing enzyme, as well as physical therapy, occupational therapy, and other supportive care measures.

    • Overall, MPS IVB is a rare genetic disorder that can have a significant impact on an individual's health and well-being. While there is no cure for the condition, early diagnosis and treatment can help manage symptoms and improve quality of life. If you or a loved one is experiencing symptoms of MPS IVB, it's important to speak with a healthcare provider for proper evaluation and management.

    1. References:
      • “Mucopolysaccharidoses Fact Sheet.” National Institute of Neurological Disorders and Stroke, U.S. Department of Health and Human Services, 26 Mar. 2019, www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Mucopolysaccharidoses-Fact-Sheet.
      • “Mucopolysaccharidosis Type IV.” Genetic and Rare Diseases Information Center, U.S. Department of Health and Human Services, rarediseases.info.nih.gov/diseases/6417/mucopolysaccharidosis-type-iv.

    Treatment of Morquio B mucopolysaccharidoses:

    Treatment Options for Morquio B Mucopolysaccharidoses
    Morquio B Mucopolysaccharidoses, also known as MPS IVB, is a rare genetic disorder that affects the body's ability to break down certain sugars. This condition can cause a range of symptoms, including skeletal abnormalities, respiratory problems, and heart issues. While there is currently no cure for Morquio B MPS, there are severa...

    To see full information about treatment please Sign up or Log in

    Back