About Mucopolysaccharidosis IIIA
Mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A, MPS IIIA) is a rare and deadly lysosomal storage disease. There is no approved treatment method, which mainly affects the central nervous system. It is characterized by rapid neurodevelopment and physical decline. Children with MPS IIIA exhibit progressive language and cognitive decline, as well as behavioral abnormalities. Other symptoms include sleep problems and frequent ear infections. In addition, there are obvious facial features in early childhood, such as thick or single eyebrows, plump lips and excessive body hair, and hepatosplenomegaly. MPS IIIA is caused by a genetic mutation that results in a deficiency of the SGSH enzyme responsible for breaking down glycosaminoglycans, which accumulate in systemic cells, leading to rapid health-related debilitating health.