May also be called: Sanfilippo's Syndrome; Mucopolysaccharidosis Type III;
Sanfilippo (san-fuh-LEE-po) syndrome is a genetic
disorder that makes the body unable to break down certain carbohydrates (sugars) in
the blood, leading to serious problems in the brain
and nervous system.
More to Know
The body produces substances called glycosaminoglycans (GAGs) to help build cartilage
and do other important functions. GAGs, also called mucopolysaccharides, are long
chains of sugar molecules that the body needs to help it develop correctly. Once GAGs
have done their job, the body breaks them down through metabolism.
When a child is born with Sanfilippo syndrome, it means that he or she has a defect
in the genes that make enzymes needed to break down a GAG called heparan sulfate.
Over time, the used heparan sulfate builds up in the cells and keeps them from working
the way they should. This can damage organs and lead to severe problems with growth,
mental development, and behavior.
There are four enzymes involved in breaking down heparan sulfate, so there are
four types of Sanfilippo syndrome (A, B, C, and D), depending on which enzyme is missing.
Type A is the most severe form.
A family history increases the risk for Sanfilippo syndrome,
which affects about 1 in 70,000 births. Symptoms usually appear gradually
when a child is between 2 and 6 years old, and get worse over time. Most kids with
Sanfilippo syndrome reach their teenage years, and some can live longer, although
others with severe types of the condition may die younger.
Keep in Mind
At this time, there is no cure for Sanfilippo syndrome, although some tests and
clinical trials have many doctors believing that help could be on the way. Treatment
for Sanfilippo syndrome is focused on easing symptoms and giving a child the best
quality of life for as long as possible.
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