Mucopolysaccharidosis type IIIA

Disease Overview

Mucopolysaccharidosis type IIIA (MPS IIIA) is a severe, progressive disorder that affects the central nervous system.[7379] In people with MPS IIIA, the body cannot break down a large sugar molecule called heparin sulfate.[950][951] Signs and symptoms usually begin in early childhood and include severe neurological symptoms such as progressive dementia, aggressive behavior, hyperactivity, seizures, deafness, loss of vision, and an inability to sleep for more than a few hours at a time.[950][7379] MPS IIIA is caused by mutations in the SGSH gene and is inherited in an autosomal recessive manner.[7379] There is currently no specific treatment for MPS IIIA; affected people usually do not survive past the second decade of life.[7380]

Synonyms

• Heparan sulfamidase deficiency
• MPS3A
• MPSIIIA
• Mucopolysaccharidosis type 3A
• Sanfilippo syndrome type A
• Mucopoly-saccharidosis type 3A
• Sanfilippo syndrome A
• Heparan sulfate sulfatase deficiency
• MPS IIIA
• MPS 3A