User:Mr. Ibrahem/Mucopolysaccharidosis type III

Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a progressive disorder that primarily affects the brain and spinal cord. There are generally no signs at birth, with onset beginning in early childhood. Initial symptoms include speech and behavior problems followed by worsening intellectual disability. Sleep problems also often occur. In later stages, seizures and movement disorders may occur.

It occurs due to mutations in specific genes for enzymes involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs), specifically heparan sulfate. This results in the build up of these molecules inside lysosomes. It is inherited from a persons parents in an autosomal recessive manner. It is a type of mucopolysaccharidoses and a type of lysosomal storage disorder. Diagnosis is by detecting mucopolysaccharides in the urine, blood enzyme activity, and genetic testing.

Treatment is supportive care. A number of measures are being studied including gene therapy, stem cell therapy, and enzyme replacement therapy. Life expectancy is around 15 to 20 years old. MPS III affects about 1 in 70,000 newborns. The disease was first described in 1963 by Sylvester Sanfilippo.