Christopher R, Shetty K T
Department of Neurochemistry, National Institute of Mental Health and Neurosciences, Post Box 2900, 560029 Bangalore.
Indian J Clin Biochem. 1997 Jul;12(2):102-7. doi: 10.1007/BF02873671.
The cerebral sphingolipidoses which form part of a larger group of lysosomal disorders can be detected and conclusively confirmed by the demonstration of the relevent enzyme deficiency in easily available tissue samples like serum. We have assayed acid β-galactosidase, β-hexosaminidase and its isozymes hexosaminidase A and B, and arylsulfatase A in the serum of patients with progressive cerebral dysfunction and detected 18 patients with enzyme defects, thereby confirming the diagnosis of a specific type of cerebral lipidosis in these patients. The assay of serum lysosomal enzymes was of immense diagnostic use as it obviated the need for highly invasive techniques like a brain biopsy.
构成一大类溶酶体疾病的脑鞘脂沉积症，可以通过在血清等易于获取的组织样本中证明相关酶缺乏来检测并最终确诊。我们检测了进行性脑功能障碍患者血清中的酸性β-半乳糖苷酶、β-己糖胺酶及其同工酶己糖胺酶A和B以及芳基硫酸酯酶A，发现18例患者存在酶缺陷，从而确诊这些患者患有特定类型的脑脂质沉积症。血清溶酶体酶检测具有巨大的诊断价值，因为它无需像脑活检这样的高侵入性技术。
