Definition

What is Sanfilippo syndrome?

Sanfilippo is a metabolic disorder caused by an enzyme deficiency, making the body unable to break down a sugar molecule called glycosaminoglycans. With this lack of enzyme, glycosaminoglycans build up into harmful amount and cause variety of symptoms and complications, especially fatal brain damage. Sanfilippo is referred to as a childhood disease because most patients never reach adulthood.

The disease has four subtypes (A, B, C and D). Each subtype corresponds to a specific deficient enzyme.

How common is Sanfilippo syndrome?

Sanfilippo syndrome is extremely rare.  1 in 70,000 children is born with this inherited condition. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Sanfilippo syndrome?

The common symptoms of Sanfilippo syndrome are:

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you or your loved one has any signs or symptoms listed above or has any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Sanfilippo syndrome?

Sanfilippo syndrome is an inherited disorder. This means it is passed down through families. If both parents carry a nonworking copy of a gene related to this condition, each of their children has a 25% (1 in 4) chance of developing the disease. This is called an autosomal recessive trait.

Sanfilippo syndrome occurs when the enzymes needed to break down the heparan sulfate sugar chain are missing or defective.

There are four main types of Sanfilippo syndrome. The type a person has depends on which enzyme is affected.

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.

Risk factors

What increases my risk for Sanfilippo syndrome?

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

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

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:

How is Sanfilippo syndrome treated?

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.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Sanfilippo syndrome?

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: February 5, 2018 | Last Modified: February 5, 2018

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