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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