Sanfilippo

Sanfilippo syndrome is a metabolic disorder characterized by the body's inability to properly break down long chains of sugar molecules called glycosaminoglycans (previously called mucopolysaccharides). It is classified as a type of mucopolysaccharidosis (MPS), specifically MPS III.

Types[edit | edit source]

Sanfilippo syndrome is divided into four subtypes, A, B, C, and D, which are distinguished by their genetic cause and the specific enzyme that is deficient:

Sanfilippo syndrome type A is caused by a deficiency in the enzyme heparan N-sulfatase. It is the most severe subtype.
Sanfilippo syndrome type B is caused by a deficiency in the enzyme alpha-N-acetylglucosaminidase.
Sanfilippo syndrome type C is caused by a deficiency in the enzyme acetyl-CoA:alpha-glucosaminide acetyltransferase.
Sanfilippo syndrome type D is caused by a deficiency in the enzyme N-acetylglucosamine 6-sulfatase.

Symptoms[edit | edit source]

Symptoms of Sanfilippo syndrome generally become noticeable between 2 and 6 years of age. They may include:

Diagnosis[edit | edit source]

Sanfilippo syndrome is diagnosed through a clinical examination and laboratory tests. Genetic testing can identify the specific subtype.

Treatment[edit | edit source]

There is currently no cure for Sanfilippo syndrome. Treatment is focused on managing symptoms and improving quality of life.

Prognosis[edit | edit source]

The life expectancy for individuals with Sanfilippo syndrome varies, but most individuals do not live past their teenage years.

See also[edit | edit source]

Sanfilippo Resources
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