Sanfilippo syndrome is even known as Mucopolysaccharidosis Type III or (MPS III). Sanfilippo coined by Dr.Sylvester Sanfilippo in 1963. Sanfilippo is a rare genetic condition that causes fatal brain damage

Including all four types of MPS III cases found is 1 in 70,000 newborns. MPS IIIA is the most common case, MPS IIIB and MPS IIIC are less common and MPS IIID is rarest.

MPS Type (III) has four different types is A, B, C, and D.GNS, HGSNAT, NAGLU, and SGSH.

What causes Sanfilippo diseases?

In a body, it requires an enzyme to break down chains of sugar molecules which are called mucopolysaccharides it is even known as glycosaminoglycans or GAGs, It is naturally produced by the body.

A Sanfilippo syndrome individual not able to break into a chain of sugar due to that result sugar molecules get collected in cells and the cellular machinery cannot work as it requires.

Due to the accumulation of glycosaminoglycans, most of the cells die and the important tissue is lost.

In the Sanfilippo Syndrome case, the individual body does not have enough enzymes to break down a special sugar called Heparan Sulfate.

There are four different types of Sanfilippo are A, B, C, and D. Each type has different characteristics and effects on the body.

Type A is the most common form of mucopolysaccharides, usually case found of type A. MPS IIIA is caused by mutations in the SGSH gene

Type B are less common case,MPS IIIB is caused by NAGLU gene mutation.

Type C is also less common, HGSNAT is the result of a mutation in mucopolysaccharides III.

Type D is rarest form and it is caused by the mutation of GNS gene.

Due to mutation of genes reduce the enzyme functions therefore heparin sulfate not able to break-down long chain of sugar molecules.


Read this: What is the early sign of cerebral palsy?

What is the Sanfilippo Symptom?

MPS III has four types IIIA, IIIB, IIIC, and IID but MPS III has the same identical symptoms. MPS IIIA occurs in the early stage of life.

Affected children generally do not show any signs or symptoms at birth.

  • Diarrhea
  • Sleep difficulties
  • Speech delays
  • Sinus Infections
  • Walking problems
  • Short stature
  • Frequent upper respiratory infections
  • Deve
  • Hearing loss
  • Heavy Eyebrows
  • Carpal tunnel syndrome

How Sanfilippo Syndrome Diagnosed?

Actually, there is no cure for Sanfilippo syndrome yet But doctors and researcher are trying hard to find

  • significant behavioral problems
  • speech or developmental delays that get worse over time

A urine test will help to check the high level of GAGs in a child pee that can confirm syndromes.


Sanfilippo syndrome is a rare disease and researchers are trying hard to find medications.

Take care of your child In case of any emergency Please contact Doctor.


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