What Is Sanfilippo Syndrome?

Sanfilippo Syndrome is a genetic metabolic disorder in which the body is unable to break down a sugar molecule called glycosaminoglycans. This disease is caused due to a missing or malfunctioning enzyme responsible for breakdown of glycosaminoglycans resulting in its buildup in the body causing variety of symptoms and complications. As of now, Sanfilippo Syndrome does not have any cure and the overall prognosis of children affected with this disease is guarded with some children surviving till teenage years.

Sanfilippo Syndrome

Sanfilippo Syndrome is also called as Mucopolysaccharidosis type III or MPS III

What Are The Causes And Types Of Sanfilippo Syndrome?

Sanfilippo Syndrome is an autosomal recessive trait meaning that both parents need to carry the defective gene in order for the offspring to get the disease. There are basically four type of Sanfilippo Syndrome. These are:

  • Sanfilippo Type-A: This is the most severe form of disorder and is caused due to missing or malfunctioning enzyme called heparan N-sulfatase.
  • Sanfilippo Type-B: This form of Sanfilippo Syndrome develops when there is a missing or malfunctioning enzyme called alpha-N-acetylglucosaminidase.
  • Sanfilippo Type-C: This type of Sanfilippo Syndrome develops when there is a missing or malfunctioning enzyme called acetyl-CoAlpha-glucosaminide acetyltransferase.
  • Sanfilippo Type-D: This type of Sanfilippo Syndrome develops when there is a missing or malfunctioning enzyme called N-acetylglucosamine 6-sulfatase.

The risk of developing Sanfilippo Syndrome is magnified when there is a known family history of this disease.

What Are The Symptoms Of Sanfilippo Syndrome?

Some Of The Symptoms Of Sanfilippo Syndrome Are:

  • Behavioral disorder
  • Rough facial features
  • Diarrhea
  • Sleeping problems
  • Joint stiffness
  • Ambulation problems

How Is Sanfilippo Syndrome Diagnosed?

For diagnosis of Sanfilippo Syndrome, if a physical examination is conducted then there will be visible swelling of the liver and spleen. A neuropsychological evaluation can also be done to look for intellectual abnormalities which is a feature of Sanfilippo Syndrome. Urine tests may be done to look for elevated levels of glycosaminoglycans.

Some of the other tests that can be done for a confirmatory diagnosis of Sanfilippo Syndrome are:

  • Blood Tests
  • EKG
  • Slit -lamp exam
  • Bone x-rays

What Are Treatments For Sanfilippo Syndrome?

As stated, till date there is no definitive cure for Sanfilippo Syndrome. This disease progresses gradually and causes severe mental impairment. Supportive treatment is the only option at the present time. Research is on to develop a treatment for Sanfilippo Syndrome.

Life Expectancy In Sanfilippo Syndrome

A child with Sanfilippo Syndrome may survive up to teenage years or may be even longer but the quality of life may not be good with intellectual abnormalities. Children with Type-A Sanfilippo Syndrome may not survive for long.

Complications Of Sanfilippo Syndrome

Some Of The Complications Of Sanfilippo Syndrome Are:

  • Permanent blindness
  • Not being able to care for self
  • Intellectual abnormalities
  • Worsening nerve damage
  • Seizures

Written, Edited or Reviewed By:


Last Modified On: May 11, 2017

Pain Assist Inc.

Pramod Kerkar
  Note: Information provided is not a substitute for physician, hospital or any form of medical care. Examination and Investigation is necessary for correct diagnosis.

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