Maroteaux-Lamy Syndrome (MPS VI)

What is Maroteaux-Lamy syndrome?

Maroteaux-Lamy syndrome, also called Mucopolysaccharidosis type VI (MPS VI), is a condition caused by the body not having enough of a specific enzyme called arylsulfatase B. This enzyme breaks down a specific type of sugar in the body called mucopolysaccharides. The buildup of mucopolysaccharides can affect internal organs such as the brain, heart and liver. Other symptoms of Maroteaux-Lamy syndrome can be seen on the outside, including changes in bone development, a larger than normal head size, facial feature differences and cloudy films over the eyes. People with Maroteaux-Lamy syndrome first show signs and symptoms starting in early childhood.

How common is Maroteaux-Lamy syndrome?

Maroteaux-Lamy syndrome affects about 1 in every 250,000 babies born in the United States each year.

What can be done for Maroteaux-Lamy syndrome?

People with Maroteaux-Lamy syndrome can be given can be given a form of treatment that replaces the missing enzyme in their body - this is called enzyme replacement therapy (ERT). Some people with Maroteaux-Lamy syndrome are also candidates for stem cell transplants, which can treat some symptoms of the condition. While ERT and stem cell transplant aren’t complete cures for Maroteaux-Lamy syndrome, they can make many of the symptoms less severe, helping people with this condition gain a longer, better quality of life.

How is Maroteaux-Lamy syndrome inherited?

Maroteaux-Lamy syndrome is caused by changes in the ARSB gene. It is a recessive inherited condition, which means that a person must inherit two altered copies of the ARSB gene, one from each parent, in order to have the disease. People who have only one copy of the altered ARSB gene are called carriers, and are not expected to have symptoms of the condition. If a baby is identified as a carrier for Maroteaux-Lamy syndrome through Eli screening, genetic counseling and additional testing in the parents is recommended.

References

https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-vi#
https://clinicaltrials.gov/ct2/results?cond=%22mucopolysaccharidosis+type+VI%22
https://rarediseases.org/rare-diseases/maroteaux-lamy-syndrome/

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