Maroteaux-Lamy syndrome, also known as mucopolysaccharidosis type VI (MPS VI), is a congenital disorder that causes many tissues and organs to enlarge and become inflamed or scarred because of complete or partial enzyme ASRB activity. This lack of enzyme activity can lead to multiple problems and can be life-threatening. Skeletal abnormalities are also common in this condition. The rate at which symptoms worsen varies among affected individuals.
Common synonyms for Maroteaux-Lamy syndrome include:
- Mucopolysaccharidosis type VI
- MPS VI
- Arylsulfatase-B Deficiency
- MPS 6
- Polydystrophic dwarfism
Symptoms of Maroteaux-Lamy Syndrome
The rate of progression and onset varies from child to child, but the following are common symptoms associated with MPS VI:
- Bone and joint malformation
- Breathing problems
- Corneal clouding
- Delayed/absent puberty
- Hearing and vision problems
- Heart problems
- Short stature
- Walking problems (usually present by age 10)
Diagnosis & Treatment of Maroteaux-Lamy Syndrome
MPS VI can be diagnosed during genetic testing or during the early stages of pregnancy for families with a history of Maroteaux-Lamy syndrome. MPS VI can also be diagnosed be performing a urine test, enzyme test, and or blood test. Mutation testing is used to confirm the diagnosis.
There is no cure for MPS VI, however treatment for MPS VI should begin as soon as a child has been diagnosed with the condition to ensure a better quality of life. Treatment options are based on the severity of the disease and what age the onset has occurred. Treatments may include enzyme replacement therapy (Naglazyme) or bone marrow transplant. Other surgeries may be required to fix or manage conditions that arise with the disease.