Causes & Symptoms

Sanfilippo Syndrome is a rare genetic metabolic condition. Even though some may not show signs, this progressive disorder can be diagnosed in the early stages of life. It can be detected before birth, which is recommended if there’s a family history of the syndrome. It is done through prenatal genetic testing using techniques like amniocentesis and chorionic villus sampling.

This illness changes a single gene and affects how the body breaks down certain carbohydrates (sugar). This can lead to serious issues in the child’s brain and nervous system. As the disease progresses, the children degenerate, lose their ability to eat, speak, walk, and eventually lose their lives.

Causes of Sanfilippo syndrome in children

The body creates long chains of sugar molecules called glycosaminoglycans (GAGs) or mucopolysaccharides. They are used in cell communication, and the body uses them to build cartilage, connective tissue, nerve tissue, and skin, as well as help blood clot.

In a healthy body, special enzymes called mucopolysaccharides break down long chains of sugar molecules for building connective tissues. It is also used for building and maintaining tissues like cartilage, organs, and skin. When the body is finished using these molecules, it breaks down the sugar chains that are no longer needed and then disposes of them. However, in children with Sanfilippo syndrome, the body lacks one of the essential enzymes required for this process. Instead of being cleared out, the sugars build up inside the cells, especially in the brain. When this happens, it causes damage over time.

Symptoms of Sanfilippo Syndrome

Children with Sanfilippo syndrome typically do not display any symptoms at the time of birth. Rather, most symptoms begin to develop in early childhood. The signs may vary significantly depending on the subtype of the disease. Features of MPS IIIA usually appear earlier in life and progress more rapidly than symptoms in other Sanfilippo syndrome subtypes. However, there is a high degree of variation in the number of symptoms and their severity, even within a specific subtype.