sanfilippo syndrome

By Oscar and J.B.

Description of Sanfilippo Syndrome:

Children that have Sanfilippo Syndrome do not have an essential enzyme which breaks down a body sugar called heparin sulfate. Sanfilippo Syndrome is one of the seven Mucopolysaccharide Disorders. There are four different enzyme problems that cause Sanfilippo Syndrome. The Sanfilippo disorders are in classes called A, B, C, or D. There is a small difference between the four classes. There have been a few cases of class B form reported where the children have been healthy until early adult life. Sanfilippo syndrome is transmitted by autosomal recessive traits. It probably is one of the most or most common of the mucopolysaccharide storage diseases. Sanfilippo syndrome starts taking effect relatively late rather then early onset in the person’s life Sanfilippo syndrome was first described in the year 1963 by Dr. Sylvester Sanfilippo.Sanfilippo syndrome is considered rare, with an occurrence rate of 1 out of every 25,000 live births. It is a recessive hereditary disorder because both parents have to be carriers of the defective gene and both must pass the gene on to the child in order for the child to be affected. There is a one in four chance of having a child born with Sanfilippo syndrome when both parents are carriers. There is also a two in three chance that unaffected children will be carriers. People with Sanfilippo syndrome have diferent features from Hurler Syndrome; the cornea of the Sanfilippo victim is clear, and the life span is possibly longer.

heparan N-sulfatase


acetyl-CoA:alpha-glucosaminide acetyltransferase

N-acetylglucosamine-G-sulfate sulfatase

Effects of Sanfilippo Syndrome:

There are many different effects of Sanfilippo Syndrome. Some of these effecs are hyperactivity, sleep disorders, loss of speech, dementia and typically death before adulthood. There are many other effects that Sanfilippo Syndrome has but these are the most dangerous. Just as most effects of the mucopolysaaharide storage diseases, affected individuals with Sanfilippo syndrome have coarse facial features, lower mental ability that leads to severe mental retardation, stiff joints, gait and speech disturbance and behavioral problems.


  • Family history of Sanfilippo syndrome
  • May have normal growth during first few years, but final height is below average
  • Delayed development followed by deteriorating mental status
  • Deterioration of gait
  • Coarse facial features
  • Full lips
  • Heavy eyebrows that meet in the middle of the face above the nose
  • Diarrhea
  • Stiff joints that may not extend fully


Cure for Sanfilippo Syndrome:

There is no cure for Sanfilippo Syndrome at the moment but there are groups trying to find a cure like the group called "cure kirby". Experiments on animals may replace the enzyme that is missing. People may be cured from this disorder in the near or far future.

work cited:

cure kirby, cure kirby, August 212006.

he Department of Health and Human services, ?, May 2 2007.