Hurler-Scheie Syndrome (MPS I)

What is Hurler-Scheie syndrome?

Hurler-Scheie syndrome, also called mucopolysaccharidosis type 1 or MPS1), is the result of the body not having enough of a specific enzyme called IDUA. Without normal levels of this enzyme, extra amounts of carbohydrates, also called mucopolysaccharides, build up in the cells of the body. Many parts of the body can be affected by Hurler-Scheie syndrome, including the bones (skeleton), eyes, brain, liver, spleen, lungs, and heart.. Symptoms of Hurler-Scheie syndrome range from severe (noticeable at or just after birth) to mild (appearing during late childhood).

How common is Hurler-Scheie syndrome?

About 1 in 100,000 babies is born with Hurler-Scheie syndrome in the United States each year.

What can be done for Hurler-Scheie syndrome?

People with Hurler-Scheie syndrome can be given a form of treatment that replaces the missing IDUA enzyme - this is called enzyme replacement therapy (ERT). Some people with Hurler-Scheie syndrome are also candidates for bone marrow stem cell transplants, which can treat other symptoms of Hurler-Scheie syndrome. While ERT and bone marrow transplant aren’t a complete cure for Hurler-Scheie syndrome, it can make many of the symptoms less severe, helping people with Hurler-Scheie syndrome gain a better quality of life.

How is Hurler-Scheie syndrome inherited?

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

References

https://www.ncbi.nlm.nih.gov/books/NBK1162/
https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-i#

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