Farriaux J P, Strecker G
Arch Fr Pediatr. 1979 Mar;36(3):225-34.
I cell disease is characterised by loss of lysosomal enzymes from fibroblasts with accumulation of the same enzymes in the surrounding fluid. The urine oligosaccharides are composed by sialyl-oligosaccharides with equal numbers of alpha (2--6) and alpha (2--3) neuraminic acid -beta-galactoside bonds. A defect in the alpha (2--6) and alpha (2--3) neuraminidase activity in leucocytes and fibroblasts has been demonstrated. This deficit is the primary abnormality in I cell disease and it can be compared to the partial enzyme deficiencies described particularly in Mucolipidosis type I.
I细胞病的特征是成纤维细胞溶酶体酶丧失，相同的酶在周围液体中积聚。尿寡糖由具有等量α（2-6）和α（2-3）神经氨酸-β-半乳糖苷键的唾液酸寡糖组成。已证实在白细胞和成纤维细胞中α（2-6）和α（2-3）神经氨酸酶活性存在缺陷。这种缺陷是I细胞病的主要异常，可与特别是在I型粘脂贮积症中描述的部分酶缺乏症相比较。
