Sanfilippo B Syndrome (MPS IIIB)

What is Sanfilippo B syndrome?

Sanfilippo B syndrome, also called mucopolysaccharidosis type IIIB (MPS IIIB), is a condition caused by the body not having enough of a specific enzyme called heparan N-sulfatase. This enzyme breaks down a specific type of sugar in the body called mucopolysaccharides. The buildup of mucopolysaccharides can affect different parts of the body such as the brain, spinal cord, liver and bones. Other symptoms of Sanfilippo B syndrome can include short height, facial feature differences and hearing or vision loss. People with Sanfilippo B syndrome first show signs and symptoms starting between the age of two and six years.

How common is Sanfilippo B syndrome?

Sanfilippo B syndrome affects about 1 in every 200,000 babies born each year in the United States.

What can be done for Sanfilippo B syndrome?

While there is no cure for Sanfilippo syndrome, some of it’s symptoms can be managed by a team of medical specialists. Also, there are several clinical trials of investigational treatments underway in the United States aimed at curing the condition, or preventing some of its symptoms.

How is Sanfilippo B syndrome inherited?

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


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