RARES DISEASES AROUND THE WORLD
OF THESE DISEASES HAVE GENETIC ORIGIN.
OF PEOPLE AFFECTED BY RARE DISEASES IN THE WORLD
THE SANFILIPPO DISEASE OR SANFILIPPO SYNDROME
which was named after Dr.Sylvester Sanfilippo, who described its conditions in 1963, is a type III mucopolysaccharidosis (MPS III) caused by the deficiency of one of the four lysosomal enzymes responsible for the breakdown of heparan sulphate. Each of these enzymes performs a crucial stage in the catabolism of heparan sulphate. Their deficiency results in a very significant nerve degeneration that generally leads to death before the age of 20.
There are four types of MPS III, namely types A, B, C and D, which refer to the deficiency of the enzyme responsible for one of the stages in the breakdown of heparan sulphate.
In the case of a child affected by the Sanfilippo Syndrome of Type A, the enzyme transforms substance A into a deficient substance B.
consequences of the disease
This results in an excess of substance A that the body cannot eliminate and that will be stored directly inside the brain. Furthermore, substances B, C and D will not exist in sufficient doses in the child's body.
A child suffering from Sanfilippo Syndrome displays no anomaly at birth, the first symptoms appearing between 2 and 6 years of age. The first sign of the disease is a change in the child's behaviour. From then onwards the evolution of the child is gradual.
The disease being progressive, the child becomes hyperactive and frequently has great difficulty to learn. Some children sleep very little at night.
MPSIII is a rare recessive genetic disease. Its prevalence is difficult to establish as it is presumably under-diagnosed, but it can be estimated at 1 : 70'000 births.
Several associations promoting the research of efficient therapeutic solutions for children suffering from mucopolysaccharide disease of type III now exist throughout the world. But after extensive research we ascertained that none was established here in Switzerland.