Sanfilippo syndrome

:: Definition :: Causes :: Symptoms :: Treatment

Search results last updated: 5/9/2009

sanfilippo syndrome - Definition: (Source: MedicineNet)

Sanfilippo syndrome: The most common disorder of mucopolysaccharide metabolism, a syndrome in which the onset of clinical abnormalities is between the ages of 2 and 6 with mild coarsening of the facial features (but normal clear corneas), mild stiffening of the joints, slowing of growth, and intellectual deterioration resulting in severe mental retardation. ...
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Causes of sanfilippo syndrome (Source: MedLinePlus)

Sanfilippo syndrome occurs when the substances (enzymes) needed to break down the heparan sulfate sugar chain are missing or are defective. There are four main types of Sanfilippo syndrome, also called MPS III. Which type a person has depends on which enzyme is affected. Sanfilippo type A is the most severe form. Persons with this type are missing or have an altered form of an enzyme called heparan N -sulfatase. Sanfilippo type B occurs when a person is missing or doesn't not produce enough alpha- N -acetylglucosaminidase. Sanfilippo C occurs when a person is missing or doesn't not produce enough acetyl-CoAlpha-glucosaminide acetyltransferase. Sanfilippo D occurs when a person is missing or doesn't not produce enough N -acetylglucosamine 6-sulfatase. The syndrome is inherited as an autosomal recessive trait. That means both your parents must pass you the defective gene in order for you to get this disease. Sanfilippo syndrome is possibly the most common forms of MPS. It is seen in about 1 in 70,000 births. A family history of Sanfilippo syndrome increases one's risk for this condition. ... [ read more.. ]

Symptoms of sanfilippo syndrome (Source: MedLinePlus)

Unlike other forms of MPS, symptoms appear after the first year of life. A decline in learning ability typically occurs between ages 2 and 6. The child may have normal growth during first few years, but final height is below average. Delayed development is followed by deteriorating mental status. Other symptoms include: Walking problems; Coarse facial features; Full lips; Heavy eyebrows that meet in the middle of the face above the nose; Diarrhea; Stiff joints that may not extend fully. ... [ read more.. ]

sanfilippo syndrome - Conventional Treatments (Source: MedLinePlus)

There is no specific treatment available for Sanfilippo syndrome. ... [ read more.. ]

	sanfilippo syndrome: Health Search Results from the Invisible Web

sanfilippo syndrome: Health Search Results from the Invisible Web