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

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

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

• Developmental delay
• Behavioral problems
• Sleep disturbances
• Seizures
• Hearing loss
• Vision loss

Diagnosis

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

Treatment

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

Prognosis

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

See also

• Mucopolysaccharidosis
• Metabolic disorder
• Genetic disorder

Sanfilippo Resources
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