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Sanfilippo syndrome is one of the hereditary mucopolysaccharide storage diseases, which are characterized by the absence of one of several enzymes . Normally, these enzymes help rid the body of a substance found outside of our cells, called a mucopolysaccharide.
In Sanfilippo syndrome, large amounts of a mucopolysaccharide called heparan sulfate is excreted in the urine.
Causes, incidence, and risk factors
Sanfilippo syndrome is transmitted as an autosomal recessive trait. It is possibly the most common of the mucopolysaccharide storage diseases. In Sanfilippo syndrome, onset is relatively late, rather than during the first year of life.
As with most of the mucopolysaccharide storage diseases, affected individuals have coarse facial features, decreased mental development that progresses to severe mental retardation , stiff joints, gait disturbances, speech disturbances , and behavioral problems.
Unlike Hurler syndrome , in people with Sanfilippo syndrome, the cornea is clear, the condition is not as unrelenting, and survival times are longer, often into the 20s or later.
Signs and tests
TreatmentThere is no specific treatment for Sanfilippo syndrome. Specific complications may respond to conventional treatments as they arise.
Support GroupsNational MPS Society, Inc., www.mpssociety.org
Severe retardation is the most important of the clinical problems. IQs may be below 50. Severe cases lead to death before 20 years of age.
In a minority of cases, Sanfilippo is compatible with a normal lifespan. The affected person may develop retinal degeneration leading to blindness , or may have seizures .
Calling your health care providerCall your health care provider if your child does not seem to be growing or developing normally.
Call for an appointment with your health care provider if you plan to have children and you have a family history of Sanfilippo syndrome.
PreventionGenetic counseling is recommended for prospective parents with a family history of Sanfilippo syndrome.
Update Date: 8/6/2003Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
Last updated: Tue, 06 Jan 2009 00:20:03 GMT