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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)
Sanfilippo Syndrome Prognosis (Expectations)
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.
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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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