CARBOHYDRATE-DEFICIENT GLYCOPROTEIN-SYNDROME TYPE-II - A DEFICIENCY IN GOLGI LOCALIZED N-ACETYL-GLUCOSAMINYLTRANSFERASE-II
CARBOHYDRATE-DEFICIENT GLYCOPROTEIN-SYNDROME TYPE-II - A DEFICIENCY IN GOLGI LOCALIZED N-ACETYL-GLUCOSAMINYLTRANSFERASE-II
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DOI：
10.1136/adc.71.2.123
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发表时间：
1994-08-01
影响因子：
5.2
通讯作者：
SPIK, G
中科院分区：
文献类型：
--
作者：
JAEKEN, J;SCHACHTER, H;SPIK, G
碳水化合物缺乏糖蛋白（CDG）综合征是一种严重累及神经系统的遗传性多系统疾病家族。本报告是关于一名患有CDG综合征的儿童，与经典病例不同，但与1991年报道的一名患者非常相似。因此，这两例患者都被指定为CDG综合征II型。与I型患者相比，他们有更严重的精神运动障碍，但没有周围神经病变和小脑发育不全。等电聚焦获得的血清转铁蛋白异构体图显示，二氮转铁蛋白为主要组分。本例患者所研究的血清二氮转铁蛋白，每摩尔转铁蛋白含有2摩尔截断的单天线Sialyl-Gal-GlcNAc-Man(α 1—>3)[Man(α 1—>6)]Man(β 1—>4)G1cN Ac(β 1—>4)GlcNAc-Asn。在成纤维细胞中发现高尔基酶n -乙酰氨基葡萄糖转移酶II （EC 2.4.1.143）活性严重不足。
The carbohydrate deficient glycoprotein (CDG) syndromes are a family of genetic multisystemic disorders with severe nervous system involvement. This report is on a child with a CDG syndrome that differs from the classical picture but is very similar to a patient reported in 1991. Both these patients are therefore designated CDG syndrome type II. Compared with type I patients they have a more severe psychomotor retardation but no peripheral neuropathy nor cerebellar hypoplasia. The serum transferrin isoform pattern obtained by isoelectric focusing showed disialotransferrin as the major fraction. The serum disialotransferrin, studied in the present patient, contained two moles of truncated monoantennary Sialyl-Gal-GlcNAc-Man(alpha 1-->3) [Man(alpha 1-->6)]Man(beta 1-->4) G1cN Ac(beta 1-->4)GlcNAc-Asn per mole of transferrin. A profoundly deficient activity of the Golgi enzyme N-acetylglucosaminyl-transferase II (EC 2.4.1.143) was demonstrated in fibroblasts.