Gargoylism,Hunter Syndrome
《英文msh詞典》Gargoylism,Hunter Syndrome
[同義詞] Gargoylism,Hunter Syndrome
[主題詞] Mucopolysaccharidosis II
[中文釋義] 脂質軟骨營養障礙,Hunter綜合征
[英文釋義] Systemic lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of L-sulfoiduronate sulfatase. This disease differs from MUCOPOLYSACCHARIDOSIS I 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.