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Sanfilippo Syndrome
Alternate Names : Acetyl-CoA Alpha-Glucosaminide N-Acetyltransferase Deficiency (Type IIIC), Heparan Sulfate Sulfatase Deficiency (Type IIIA), Mucopolysaccharidosis Type III (Subtypes A - B - C - D), N-Acetylglucosamine-6-Sulfate Sulfatase Deficiency (Type IIID), N-Acetylglucosaminidase Deficiency (Type IIIB)
Definition
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.
Overview, Causes, & 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.
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Jump to another section
• Definition
• Sanfilippo Syndrome Overview, Causes, & Risk Factors
• Sanfilippo Syndrome Symptoms & Signs
• Sanfilippo Syndrome Prevention
• Sanfilippo Syndrome Diagnosis & Tests
• Sanfilippo Syndrome Treatment
• Sanfilippo Syndrome Prognosis
• Sanfilippo Syndrome Complications
• Sanfilippo Syndrome Support Groups
• Calling Your Health Care Provider
Topics that might be of interest to you Diseases & Conditions
• Hurler Syndrome
• Mental Retardation
Other Topics
• Autosomal Recessive
• Blindness
• Enzyme
• Genetic Counseling and Prenatal Diagnosis
• Hepatomegaly
• Seizures
• Speech Impairment (Adult)
Review Date : 8/6/2003
Reviewed By : Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
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