MPS IIIA

Autosomal recessive inheritance of a defective SGSH gene coding for the enzyme sulfamidase is responsible for mucopolysaccharidosis type IIIA, characterized by the effectsof heparan sulfate accumulation in lysosomes. The syndrome presents with coarse facial features, central nervous system dysfunction, behavioral difficulties, intellectual disability, sleep disturbance, hyperactivity, loss of communication skills, and lack of mobility. Failure to develop cost effective research methods and long term treatment options leaves the average expectancy at just 15 years.