Sanfilippo Syndrome C (MPS IIIC)

Mucopolysaccharidosis type IIIC (MPS IIIC) is a genetic disorder that makes the body unable to break down large sugar molecules called glycosaminoglycans (GAGs, formerly called mucopolysaccharides). Specifically, people with this condition are unable to break down a GAG called heparan sulfate. Affected individuals can have severe neurological symptoms, including progressive dementia, aggressive behavior, hyperactivity, seizures, deafness, loss of vision, and an inability to sleep for more than a few hours at a time. MPS IIIC results from the missing or altered enzyme acetyl-CoA alpha-glucosaminide acetyltransferase. Most people with MPS IIIC live into their teenage years; some live longer. (Source: Genetic and Rare Disease Information Center)

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