Sanfilippo Syndrome (MPS III)Next Topic
Sanfilippo syndrome, also known as mucopolysaccharidosis III (MPS III), is a rare genetic disease
that affects many body systems and may lead to behavioral problems, deterioration in mental development, and damage to
different body organs. It is caused by a defect in an enzyme (sulfamidase) that normally breaks down substances in the
body called glycosaminoglycans (GAG). GAG are long chains of sugar molecules that the body uses to build bones,
cartilage, skin, tendons, and other tissues. In Sanfilippo syndrome, there is an insufficient amount of the sulfamidase
enzyme, or no enzyme at all, enabling a type of GAG called heparan sulfate to accumulate in the cells. This buildup of
heparan sulfate—primarily in the central nervous system—impairs cell function and eventually causes damage to tissues and
organs, resulting in a variety of symptoms.
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