NIH GARD
Zebra of the Week: Sanfilippo Syndrome
July 24, 2024

Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a genetic disorder that affects the body's ability to break down glycosaminoglycans, specifically, heparan sulfate. It's characterized by severe neurological symptoms, including progressive dementia, aggressive behavior, hyperactivity, seizures, deafness, vision loss, and insomnia. MPS III is inherited in an autosomal recessive manner.
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