Sanfilippo Syndrome, medically referred to as Mucopolysaccharidosis Type III (MPS III), is a rare autosomal recessive genetic disorder characterized by the deficiency or malfunctioning of enzymes responsible for breaking down glycosaminoglycans (GAGs). GAGs are long chains of sugar molecules found in various tissues throughout the body. In individuals with Sanfilippo Syndrome, these GAGs accumulate mainly in the brain and central nervous system, leading to progressive and severe neurological impairment. As the disease progresses, affected children may experience developmental delays, intellectual disabilities, behavioral issues, hyperactivity, sleep disturbances, and, in later stages, loss of acquired skills. Sanfilippo Syndrome is classified into four subtypes (A, B, C, and D), each resulting from a specific enzyme deficiency. While there is currently no cure for Sanfilippo Syndrome, early intervention, supportive care, and ongoing therapies can help manage symptoms and improve the life quality affected individuals and their families.
