AllRefer Health - Sanfilippo Syndrome Diagnosis & Tests (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))

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You are here : AllRefer.com > Health > Diseases & Conditions > Sanfilippo Syndrome: Diagnosis, Tests, & Signs of Sanfilippo Syndrome

Sanfilippo Syndrome


•	Definition
•	Overview, Causes, & Risk Factors
•	Symptoms & Signs
•	Prevention
•	Diagnosis & Tests
•	Treatment
•	Expectations or Prognosis
•	Complications
•	Support Groups
•	Calling Your Health Care Provider
•	Go To Main Page

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 Diagnosis & Tests

Hepatomegaly (liver enlargement)
Spleen enlargement
Clear corneas
Echocardiogram may show thickened heart
Abnormal bone X-rays, such as thickened skull and oval vertebrae
Seizures, mental retardation
Activities of one of the enzymes listed in "Alternate Names" may be low in fibroblast skin cells
Urine may have increased heparan sulfate
Abnormal, pathological staining character of white blood cells called metachromasia

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• 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

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.

Main Page of Sanfilippo Syndrome

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