Sanfilippo syndrome
Sanfilippo syndrome is a rare genetic disorder that affects the body's ability to break down certain sugars, leading to a buildup of harmful substances in cells. It is classified as a type of mucopolysaccharidosis and primarily impacts the nervous system, resulting in progressive neurological decline. Symptoms often appear in early childhood and may include developmental delays, behavioral issues, and loss of motor skills.
The condition is caused by mutations in genes responsible for producing enzymes needed to process heparan sulfate, a type of sugar molecule. There is currently no cure for Sanfilippo syndrome, and treatment focuses on managing symptoms and improving quality of life for affected individuals.