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Hunter综合征是由于缺乏一种分解硫酸皮肤素和乙酰(型)肝素硫酸的硫代艾杜醛酸硫酸酯酶(Sulfoiduronate sulfatase),致使溶酶体中蓄积了粘多糖而引起的粘多糖代谢异常症。最近Neufeld报导,由于用来源于肝素的硫代艾杜糖磺基脱水甘露醇(Sulfoidur-onosyl sulfoanhy dromannitol)作基质,使本病的酶学诊断成为可能。这种酶存在于白细胞、血清、培养的皮肤成纤维细胞和羊水细胞中。由于本病的遗传方式是X连锁隐性遗传,用这种酶为材料做携带者的酶学诊
Hunter syndrome is due to the lack of a sulfated sulfuric acid dermatan sulfate and acetyl (type) heparin sulfates acid sulfatase (Sulfoiduronate sulfatase), resulting in lysosomal accumulation of mucopolysaccharides caused by abnormal mucopolysaccharide metabolism disease. Recently Neufeld reported that enzymatic diagnosis of the disease was made possible by the use of sulfarinuron-derived sulfoanhy dromannitol as a substrate. This enzyme is found in leukocytes, serum, cultured skin fibroblasts and amniocytes. As the genetic mode of the disease is X-linked recessive inheritance, with this enzyme as a carrier for the enzyme enzyme diagnosis