Kuriyama M, Okada S, Tanaka Y, Umezaki H
J Neurol Sci. 1980 May;46(2):245-54. doi: 10.1016/0022-510x(80)90083-0.
An adult case of mucolipidosis with beta-galactosidase and neuraminidase deficiencies is reported. The patient was a 35-year-old Japanese female with coarse face, lumbar vertebral beaking, action myoclonus, cerebellar ataxia, clouding of the cornea, macular cherry-red spots, hearing loss and vacuolated lymphocytes, but without mucopolysacchariduria. Her clinical symptoms developed at a late age with a slow progression. The enzyme activities of beta-galactosidase were deficient in leukocytes and cultured skin fibroblasts but normal in serum. Sialic acid-rich glycopeptides and oligosaccharides were increased in the urine. Neuraminidase activities toward fetuin, alpha-N-acetylneuraminosyl-(2 leads to 3) lactose and alpha-N-acetylneuraminosyl-(2 leads to 6) lactose were deficient in cultured fibroblasts. It is suggested that the main disturbance in the present case might be the catabolic process of glycoproteins and oligosaccharides due to neuraminidase deficiency.
报告了一例成人黏脂贮积症合并β-半乳糖苷酶和神经氨酸酶缺乏症的病例。患者为一名35岁的日本女性，面部粗糙、腰椎椎体鸟嘴样改变、动作性肌阵挛、小脑共济失调、角膜混浊、黄斑樱桃红斑、听力丧失以及淋巴细胞空泡化，但无黏多糖尿症。其临床症状在较晚年龄出现且进展缓慢。白细胞和培养的皮肤成纤维细胞中β-半乳糖苷酶的酶活性缺乏，但血清中正常。尿中富含唾液酸的糖肽和寡糖增加。培养的成纤维细胞中针对胎球蛋白、α-N-乙酰神经氨酸基-(2→3)乳糖和α-N-乙酰神经氨酸基-(2→6)乳糖的神经氨酸酶活性缺乏。提示本例的主要障碍可能是由于神经氨酸酶缺乏导致的糖蛋白和寡糖的分解代谢过程。
