Mucopolysaccharidosis type IIIC

Disease Overview

Mucopolysaccharidosis type IIIC (MPS IIIC) is an genetic disorder that makes the body unable to break down large sugar molecules called glycosaminoglycans (GAGs, formerly called mucopolysaccharides).[950][951] Specifically, people with this condition are unable to break down a GAG called heparan sulfate.[951] 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.[950] MPS IIIC results from the missing or altered enzyme acetyl-CoAlpha-glucosaminide acetyltransferase. This condition is inherited in an autosomal recessive manner. There is no specific treatment.[950][951] Most people with MPS IIIC live into their teenage years; some live longer.[950]

Synonyms

• Mucopoly-saccharidosis type 3C
• Sanfilippo syndrome C
• Acetyl-CoA alpha-glucosaminide n-acetyltransferase deficiency
• MPS IIIC
• MPS 3C
• HGSNAT deficiency
• MPS3C
• MPSIIIC
• Mucopolysaccharidosis type 3C
• Heparan-alpha-glucosaminide N-acetyltransferase deficiency
• Sanfilippo syndrome type C