Définition:
Systemic lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of L-sulfoiduronate sulfatase. This disease differs from by slower progression, lack of corneal clouding, and X-linked rather than autosomal recessive inheritance. The mild form produces near-normal intelligence and life span. The severe form usually causes death by age 15.
Synonyme(s):
Mucopolysaccharidose de Hunter /
Mucopolysaccharidose de type 2 /
Syndrome de Hunter /
Déficite en iduronate 2-sulfatase /