Leroy J G, O'Brien J S
Clin Genet. 1976 May;9(5):533-9. doi: 10.1111/j.1399-0004.1976.tb01608.x.
A biochemical difference is found between the mucolipidoses II and III which may be correlated with their clinical phenotypes. In homogenates of mass-cultured I-cells from patients with MLII (I-cell disease), the residual specific activity of beta-galactosidase is between 3 and 5 times lower than that in the I-cells from patients with MLIII (pseudopolydystrophy). This difference is confirmed in several coverslip culture experiments where conditions of inoculation, propagation, harvest and enzyme assays are rigidly controlled. MLIII cells also hydrolyse the natural substrates asialofetuin-(H)3-galactoside and GM1- (H)3-galactoside more easily. This observation offers support to the hypothesis that beta-galactosidase may play a role in the physiopathology of these mucolipidoses.
在黏脂贮积症II型和III型之间发现了一种生化差异，这可能与其临床表型相关。在来自黏脂贮积症II型（I型细胞病）患者的大量培养I型细胞的匀浆中，β-半乳糖苷酶的残余比活性比来自黏脂贮积症III型（假肥大型营养不良）患者的I型细胞低3至5倍。在几个盖玻片培养实验中证实了这种差异，这些实验中接种、增殖、收获和酶测定的条件都受到严格控制。黏脂贮积症III型细胞也更容易水解天然底物脱唾液酸胎球蛋白-(H)3-半乳糖苷和GM1-(H)3-半乳糖苷。这一观察结果支持了β-半乳糖苷酶可能在这些黏脂贮积症的病理生理过程中起作用的假说。
