Sanfilippo Syndrome, also known as Mucopolysaccharidosis type III (MPS III), is a rare genetic disorder characterized by the body's inability to break down complex sugar molecules called glycosaminoglycans (GAGs). These GAGs accumulate in the body's cells and tissues, leading to progressive damage that affects multiple systems, particularly the brain and central nervous system.
The syndrome is named after Dr. Sylvester Sanfilippo, who first described it in 1963. It is an inherited condition caused by mutations in genes responsible for producing enzymes that break down GAGs. There are four subtypes of Sanfilippo Syndrome - A, B, C, and D - each resulting from a mutation in a different gene.
Children affected by Sanfilippo Syndrome typically appear normal at birth but start developing symptoms between 2 and 6 years of age. Initial signs may include delayed speech, hyperactivity, and behavioral problems. As the disease progresses, children may experience severe cognitive decline, developmental regression, and loss of acquired skills. Other symptoms may include sleep disturbances, seizures, hearing loss, and progressive physical decline.
Currently, there is no cure for Sanfilippo Syndrome, and treatment options are limited. However, early diagnosis and supportive care can help manage symptoms and improve the quality of life for affected individuals. Palliative treatments may include addressing specific symptoms, such as behavioral interventions, physical and occupational therapy, as well as medications to manage seizures or sleep disturbances.
Due to the progressive nature of Sanfilippo Syndrome, it often leads to significant disability and a shortened lifespan. Therefore, ongoing research efforts are focused on developing potential disease-modifying therapies, including enzyme replacement therapies and gene therapies, to slow or halt the progression of this devastating disorder.
