Skip to main content

PEDIATRIC SERVICES

Diagnosis & Treatment

Sanfilippo Syndrome (MPS III)

Find a pediatrician

How is Sanfilippo Syndrome Diagnosed?

How is Sanfilippo Syndrome Diagnosed?

Sanfilippo syndrome is very rare and is usually not diagnosed until the child has reached the later stages of the disease. If a doctor suspects Sanfilippo Syndrome, there are several tests they may perform to confirm the diagnosis. These include:

  • Urine Test: in the most common initial test for Sanfilippo Syndrome, the doctor looks for elevated heptane sulfate levels in a child’s urine. While this test is often enough to determine the presence of Sanfilippo Syndrome, false negatives can occur and further testing may be recommended.
  • Genetic panel test: a doctor can test for the genetic markers of Sanfilippo Syndrome with a cheek swab, blood test or saliva collection.
  • Enzyme activity test: analysis of the blood’s enzymes is the most reliable method of diagnosing Sanfilippo Syndrome and can be performed with a blood draw.

How is Sanfilippo Syndrome Treated?

Treatment

There is currently no cure for Sanfilippo syndrome and no known way to slow the progression of the disease. Treatments for Sanfilippo syndrome currently focus on managing specific symptoms of the disease and improving the patient’s quality of life.

FAQs

FAQs

Since Sanfilippo Syndrome is an inherited disorder, genetic screening of both parents can help determine the risk that your child inherits Sanfilippo Syndrome. If you and your partner are at high risk of passing on the disease, family planning options like IVF and genetic screening can be considered. Prenatal screening can detect the disorder in utero. Alternatively, high-risk couples can pursue diagnostic testing of the fetus prenatally. This requires specific testing and is not detected by routine prenatal screening tests.

Sanfilippo Syndrome is a progressive disease that is ultimately fatal. The life expectancy for a person diagnosed with Sanfilippo Syndrome varies based on the subtype of the disease, but most often the disorder is fatal before the patient reaches full adulthood. New research into enzyme and gene therapies is ongoing and may increase the life expectancy of patients down the road.

Symptoms of Sanfilippo Syndrome are rarely noticeable at birth. It can take several months or years for significant symptoms to appear. Most often, you can begin to notice symptoms of Sanfilippo Syndrome in children between the ages of one and six.

Get Care

Trust NewYork-Presbyterian for Sanfilippo Syndrome Treatment

The pediatric experts at NewYork-Presbyterian understand how to guide families through the screening, diagnosis, and treatment of Sanfilippo Syndrome. From genetic counseling before pregnancy to managing individual symptoms in children with Sanfilippo Syndrome, our doctors can provide a comprehensive and compassionate experience.