Poenaru L, Castelnau L, Tome F, Boue J, Maroteaux P
Inserm U.129, Paris, France.
Eur J Pediatr. 1988 Apr;147(3):321-7. doi: 10.1007/BF00442708.
We present in this paper a patient with a clinically intermediate form of mucolipidosis (ML). Lysosomal hydrolase activity in fibroblasts was normal and levels of these enzymes in culture media were not elevated. There was a striking elevation of several hydrolases in serum and a deficiency (15% of normal) of N-acetyl-glucosamine phosphotransferase in fibroblasts. Atypical electron microscopic findings were also observed. There was no evidence of increased synthesis, slower turnover, unbalanced distribution or further changes in lysosomal enzymes. Phosphotransferase deficiency against endogenous beta-glucosaminidase and the fact that the electrophoretic mobility of lysosomal enzymes was identical to that of MLII suggest that these enzymes are not phosphorylated. Hypotheses that could explain this atypical pathology are discussed.
我们在本文中介绍了一位患有临床中间型粘脂贮积症（ML）的患者。成纤维细胞中的溶酶体水解酶活性正常，培养基中这些酶的水平未升高。血清中几种水解酶显著升高，而成纤维细胞中N-乙酰葡糖胺磷酸转移酶缺乏（为正常水平的15%）。还观察到非典型的电子显微镜检查结果。没有证据表明溶酶体酶的合成增加、周转减慢、分布失衡或有进一步变化。对内源性β-葡糖胺酶的磷酸转移酶缺乏以及溶酶体酶的电泳迁移率与MLII相同这一事实表明这些酶未被磷酸化。文中讨论了可以解释这种非典型病理的假说。
