HOUSTON — Sanfilippo Syndrome — also known as Mucopolysaccharidosis type III or MPS III — is a terminal, neurodegenerative rare disease. It causes children to lose all the skills they've gained, suffer seizures and movement disorders, experience pain and suffering, and then die, often before the second decade of life.
Because of its neurodegenerative nature and multi-system impact, Sanfilippo Syndrome is often called "childhood Alzheimer's" or "childhood dementia."
Currently there is no FDA-approved treatment or cure. But there is research happening and there is hope.
Four subtypes of Sanfilippo, or Mucopolysaccharidosis type III, have been identified – Types A, B, C, and D. The subtypes can also be referred to as MPS IIIA, MPS IIIB, MPS IIIC, and MPS IIID or Sanfilippo A, Sanfilippo B, Sanfilippo C, and Sanfilippo D.
Each subtype corresponds to a particular enzyme that is missing or not working properly in the body's process of breaking down heparan sulfate.
In most of the world, Type A is the most common subtype, making up more than half of the cases. Types B and C are less common, and Type D is the rarest.
Type A is typically considered the most-severe subtype of Sanfilippo. This means that most people with Type A have a rapidly progressing form with earlier loss of abilities, such as talking and walking, and an earlier age of death. Type B may progress somewhat less rapidly, on average. Types C and D have more variable progression rates, but most persons tend to retain skills longer than in A and B.
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