Three cases of beta-galactosidase deficiency
Three cases of beta-galactosidase deficiency
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β-半乳糖苷酶缺乏症三例
DOI：
10.1055/s-2008-1034492
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发表时间：
1981
期刊：
影响因子：
--
通讯作者：
D. Górska
中科院分区：
文献类型：
--
作者：
E. Pronicka;A. Tylki;B. Czartoryska;D. Górska
三例β-半乳糖苷酶缺乏症的临床描述。两例是典型的婴儿型GM 1-神经节苷脂沉积症，第三例的特点是骨发育不全多发性生长迟缓和正常的智力。实验室数据显示，所有描述的患者尿液中的粘多糖处于正常值的高水平，尿液中寡糖的排泄增加。具有GM 1-神经节苷脂沉积症的经典图片的两个患者具有非常低的β-半乳糖苷酶活性，其亲本细胞中的β-半乳糖苷酶活性降低了对照的50%。在第三个非典型病例中，酶缺乏症表达较少。这些病例强调了β-半乳糖苷酶缺乏症临床表现的变异性。
A clinical description of three cases of beta-galactosidase deficiency is presented. Two cases are classical for infant type GM1-gangliosidosis, the third is characterised by dysostosis multiplex with growth retardation and of normal intelligence. Laboratory data revealed mucopolysaccharides in the urine of all described patients in a high level of normal values and increased excretion of oligosaccharides in the urine. Both patients with a classical picture of GM1-gangliosidosis have a very low activity of beta-galactosidase, activity of beta-galactosidase in their parents cells is diminished by 50% of control. In the third nontypical case enzyme deficiency was less expressed. These cases emphasize the variability of the clinical expression in beta-galactosidase deficiency.