Dr. Julia Oxford
Sanfilippo syndrome (also known as MPS III) type A is caused by the mutation of gene SGSH on chromosome 17, region 17q25.3. Sanfilippo syndrome is a recessive gene affecting 1 in 70,000 babies each year. This mutation affects the mucopolysaccharides and causes the patient to lose an enzyme that is crucial to breaking down the mucopolysaccharide heparan sulfate. Heparan sulfate is stored in the cells instead of being broken down, causing progressive damage. Symptoms become apparent after the age of 1-year-old and learning abilities decline between the ages of 2 and 6. The symptoms and progression rate are different in each patient. Eventually, physical growth slows, resulting in small stature. Some other common symptoms include behavioral problems, coarse facial features, full lips, heavy eyebrows, sleep difficulties, stiff joints, and difficulty walking. There is no known cure and no approved treatment for MPS III. Bone marrow transplants and enzyme replacement therapy have not been effective in treating MPS III. Currently, gene therapy, chaperone therapy, and intrathecal enzyme therapy are being explored as treatments for Sanfilippo syndrome.
Petersen, Kassidi S.; Ross, Molly; Felix, Molly; Grillo, Lauren; Marshall, Cassandra; and Oxford, Julia, "A Meta-Analysis of Clinical Advancement in Sanfilippo Syndrome Type A" (2020). 2020 Undergraduate Research Showcase. 148.