What is it?
Children with Sanfilippo are missing an essential enzyme that breaks down a complex body sugar called heparin sulfate. This sugar slowly builds in the brain, stopping normal development and causing hyperactivity, sleep disorders, loss of speech, dementia and typically death before adulthood. There is no cure, yet.
Sanfilippo Syndrome is one of seven Mucopolysaccharide (MPS) disorders. There are four different enzyme deficiencies that cause Sanfilippo. The Sanfilippo disorders are described as type A, B, C, or D. There is very little difference among the four types, though there have been a few very mild cases of the B form reported where the children have remained relatively healthy into early adult life. Right now, doctors can treat some of Sanfilippo’s symptoms but nothing to stop the regression.
While it is estimated that Sanfilippo occurs once in 70,000 births, every year thousands of children are diagnosed with one of more than 5,000 rare genetic disorders. Many more are not diagnosed. Successful research into Sanfilippo will apply directly to many of these rare conditions.
To learn more about Sanfilippo and other related MPS disorders, including contact opportunities with families, contact The National MPS Society at https://mpssociety.org.
