I型GM1神经节苷脂贮积症一例：尿液、转化淋巴细胞的糖鞘脂谱以及外周淋巴细胞、培养的皮肤成纤维细胞和转化淋巴细胞中的β-D-半乳糖苷酶活性
A case of GM1-gangliosidosis type I: glycosphingolipid profiles of urine and transformed lymphocytes and beta-D-galactosidase activities in peripheral lymphocytes, cultured skin fibroblasts and transformed lymphocytes.
作者信息
Asano K, Shindo N, Nakasuji M, Inamori K, Ohta M, Matsushita T, Yamaguchi M, Oshima M
机构信息
Division of Clinical Biochemistry, National Medical Center Hospital, Tokyo, Japan.
出版信息
Jpn J Exp Med. 1990 Apr;60(2):73-9.
A female infant with early-onset GM1-gangliosidosis type I was investigated. The lymphocytes, transformed lymphocytes and cultured skin fibroblasts of the patient were demonstrated to have severe beta-D-galactosidase deficiency. The beta-D-galactosidase activities of these cells from the patient's father and mother were at the lower limit of the normal range. The oligosaccharide accumulation in urine of the patient showed the typical type I GM1-gangliosidosis pattern, but no GM1 ganglioside was detected in the patient's urine or transformed lymphocytes. The clinical features were compatible with infantile GM1-gangliosidosis. The mixture of homogenates from the cultured fibroblasts or transformed lymphocytes of the patient and controls showed no complementation of beta-D-galactosidase activity against the controls.
对一名患有早发型I型GM1神经节苷脂贮积症的女婴进行了研究。结果显示，该患者的淋巴细胞、转化淋巴细胞和培养的皮肤成纤维细胞存在严重的β-D-半乳糖苷酶缺乏。患者父母的这些细胞中的β-D-半乳糖苷酶活性处于正常范围的下限。患者尿液中的寡糖积累呈现出典型的I型GM1神经节苷脂贮积症模式，但在患者尿液或转化淋巴细胞中未检测到GM1神经节苷脂。临床特征与婴儿型GM1神经节苷脂贮积症相符。患者培养的成纤维细胞或转化淋巴细胞与对照的匀浆混合物对对照未显示出β-D-半乳糖苷酶活性的互补作用。
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