唾液酸酶（α - N - 乙酰神经氨酸酶）缺乏症：一名成年患者出现黄斑樱桃红斑和肌阵挛但无痴呆的酶缺陷情况。

Sialidase (alpha-n-acetyl neuraminidase) deficiency: the enzyme defect in an adult with macular cherry-red spots and myoclonus without dementia.

作者信息

Thomas G H, Tipton R E, Ch'ien L T, Reynolds L W, Miller C S

出版信息

Clin Genet. 1978 Apr;13(4):369-79. doi: 10.1111/j.1399-0004.1978.tb01194.x.

DOI:10.1111/j.1399-0004.1978.tb01194.x

Abstract

A 31-year-old male is described who has macular cherry-red spots, increased deep tendon reflexes and and myoclonus without dementia. An older brother died at age 33 of a disease with similar symptomatology. Homogenates of cultured fibroblasts from the patient exhibited 2.6, 8.1 and 12.4% of normal mean sialidase (neuraminidase, N-acetyl-neuraminosyl glycohydrolase, EC 3.21.18) activity, respectively, against 2-(3'-methoxyphenyl)-N-acetyl-alpha-neuraminic acid, N-acetyl-neuramin-lactose and fetuin. Activities of 14 other lysosomal enzymes were within the range of normal control fibroblasts. The sialidase activities in fibroblasts from the patient's parents and children were 30 to 67% of normal. It is concluded that this is the first proven case of a new autosomal recessive disorder resulting in cherry-red spots, myoclonus and a sialidase deficiency.

摘要

本文描述了一名31岁男性，其患有黄斑樱桃红斑、深部腱反射亢进和肌阵挛，但无痴呆症状。他的一位哥哥在33岁时死于一种具有相似症状的疾病。该患者培养的成纤维细胞匀浆对2-(3'-甲氧基苯基)-N-乙酰-α-神经氨酸、N-乙酰神经氨酸乳糖和胎球蛋白的唾液酸酶（神经氨酸酶，N-乙酰神经氨糖水解酶，EC 3.21.18）活性分别为正常平均值的2.6%、8.1%和12.4%。其他14种溶酶体酶的活性在正常对照成纤维细胞的范围内。患者父母和子女的成纤维细胞中的唾液酸酶活性为正常的30%至67%。结论是，这是首例经证实的由新的常染色体隐性疾病导致樱桃红斑、肌阵挛和唾液酸酶缺乏的病例。