Ohno K, Yuasa I, Akaboshi S, Itoh M, Yoshida K, Ehara H, Ochiai Y, Takeshita K
Division of Child Neurology, Tottori University School of Medicine, Yonago, Japan.
Brain Dev. 1992 Jan;14(1):30-5. doi: 10.1016/s0387-7604(12)80276-2.
We describe 3 children (from two families) with a multisystemic disorder characterized by mental retardation, nonprogressive ataxia, polyneuropathy, hepatopathy during infancy and growth retardation. Due to the clinical similarities to a recently recognized disorder associated with carbohydrate-deficient transferrin, we examined serum transferrin by means of isoelectric focusing, and found increases in disialo transferrin and asialotransferrin. Removal of sialic acid with neuraminidase revealed the same transferrin phenotypes as in their parents. Similarly, carbohydrate-deficient fractions of serum alpha 1-antitrypsin were also detected. Therefore, the diagnosis was made of the recently identified carbohydrate-deficient glycoprotein syndrome. This is a genetic disorder with distinctive clinical features and multiple carbohydrate-deficient glycoproteins. These seem to be the first reported Japanese patients with this syndrome.
我们描述了3名儿童（来自两个家庭），他们患有多系统疾病，其特征为智力迟钝、非进行性共济失调、多神经病、婴儿期肝病和生长发育迟缓。由于临床症状与最近发现的与转铁蛋白糖缺乏有关的疾病相似，我们通过等电聚焦检查了血清转铁蛋白，发现双唾液酸转铁蛋白和去唾液酸转铁蛋白增加。用神经氨酸酶去除唾液酸后，显示出与他们父母相同的转铁蛋白表型。同样，也检测到了血清α1-抗胰蛋白酶的糖缺乏部分。因此，诊断为最近发现的糖缺乏糖蛋白综合征。这是一种具有独特临床特征和多种糖缺乏糖蛋白的遗传性疾病。这些似乎是首例报道的患有该综合征的日本患者。
