Sanfilippo syndrome is named after Dr. Sylvester Sanfilippo who discovered the cause of this disease in 1963. He was able to identify that persons with this disorder are missing one of four specific enzymes essential for breaking down GAG, called heparan sulfate.
In the past, children with Sanfilippo Syndrome were often times misdiagnosed with Hunter or Hurler Syndromes. Today there are still many children misdiagnosed, with Autism added to the list of wrongly identified disorders.