Rare Disease Highlight: Sanfilippo Syndrome

Named after Dr. Sylvester Sanfilippo in 1963, Sanfilippo syndrome, or mucopolysaccharidosis type III (MPS III), is a lysosomal storage disease affecting the central nervous system of young children. This disease is caused by an autosomal recessive mutation in one of four enzymes required to break down large chains of sugar molecules called glycosaminoglycans (GAGs). These molecules are located in the cells of the nervous system and help build connective tissues in the body1. As a result of the genetic mutation, GAGs remain stored in the cells of the nervous system, causing progressive developmental damage. Sanfilippo syndrome often goes undetected for years and most children with the disease are born with no visible signs of the disease2. Symptoms such as developmental disabilities, movement disorders, significant hyperactivity, and seizures begin to appear after age 1, and learning abilities begin to slow between ages 2 and 63. Sanfilippo syndrome is rare, with an incidence of 1 in 70,000 births worldwide4. Because there is no cure or currently approved treatment, disease management or palliative care are implemented to treat symptoms, and life expectancy is typically around 15 years5.

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References used
  1. MPS III. MPS Society. https://mpssociety.org/learn/diseases/mps-iii/. Accessed July 18, 2019.
  2. Fedele AO. Sanfilippo syndrome: causes, consequences, and treatments. Appl Clin Genet. 2015;8:269-281. doi:10.2147/TACG.S57672
  3. Reference GH. Mucopolysaccharidosis type III. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iii. Accessed July 18, 2019. .
  4. Zelei T, Csetneki K, Vokó Z, Siffel C. Epidemiology of Sanfilippo syndrome: results of a systematic literature review. Orphanet J Rare Dis. 2018;13. doi:10.1186/s13023-018-0796-4
  5. Sanfilippo Children’s Foundation – What is Sanfilippo? https://www.sanfilippo.org.au/page/26/what-is-sanfilippo. Accessed July 18, 2019.

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