Fricker H, O'Brien J S, Vassella F, Gugler E, Mühlethaler J P, Spycher M, Wiesmann U N, Herschkowitz N
J Neurol. 1976 Oct 4;213(4):273-81. doi: 10.1007/BF00316267.
This report concerns a 3-month-old girl with rapidly progressive psychomotor retardation, hepatomegaly, vacuolated lymphocytes, minimal bone dysplasia and normal excretion of acid mucopolysaccharides. A deficiency of acid beta-galactosidase was demonstrated in isolated leucocytes and in a liver biopsy. The diagnosis of generalized gangliosidosis due to deficiency of beta-galactosidase was also based on the absence of the enzyme activity from cultured fibroblasts. The diagnosis was confirmed on autopsy at 16 months by typical histology, electron microscopy and biochemistry of the organs. beta-galactosidase deficiency has been demonstrated in various clinical conditions ranging from generalized gangliosidosis with severe mental retardation to clinical pictures resembling Morquio's disease and normal intelligence. The heterogeneity of the clinical manifestations in beta-galactosidase deficiency could be explained by different residual activities of a structurally mutated enzyme towards its various substrates.
本报告涉及一名3个月大的女孩，她患有快速进展的精神运动发育迟缓、肝肿大、淋巴细胞空泡化、轻度骨发育异常且酸性粘多糖排泄正常。在分离的白细胞和肝脏活检中证实存在酸性β-半乳糖苷酶缺乏。由于β-半乳糖苷酶缺乏导致的全身性神经节苷脂沉积症的诊断还基于培养的成纤维细胞中缺乏该酶活性。16个月时尸检通过典型的组织学、电子显微镜检查和器官生物化学检查证实了诊断。在从伴有严重智力迟钝的全身性神经节苷脂沉积症到类似莫尔基奥氏病的临床表现以及智力正常的各种临床情况中均已证实存在β-半乳糖苷酶缺乏。β-半乳糖苷酶缺乏临床表现的异质性可以通过结构突变酶对其各种底物的不同残余活性来解释。
