| 2 | 先天性Id型糖基化疾病:临床表型、分子学检验、产前诊断和胎儿蛋白糖基化作用显示文摘Congenital disorder of glycosylation type Id is an inherited glycosylation dis order based on a defect of the first mannosyltransferase involved in N-glycan b iosynthesis inside the endoplasmic reticulum. Only one patient with this disease has been described until now. In this article, a second patient and an aflected fetus are described. The patient showed abnormal glycosylation of several plasm a proteins as demonstrated by isoelectric focusing and Western blot. Lipid-link ed oligosaccharides in the endoplasmic reticulum, reflecting early N-glycan ass embly, revealed an accumulation of immature Man5GlcNAc2-glycans in fibroblasts of the patient. Chorion cells of the affected fetus showed the same characterist ic lipid-linked oligosaccharides pattern. However, the fetus had a normal glyco sylation of several plasma proteins. Some fetal glycoproteins are known to be de rived from the mother, but even glycoproteins that do not cross the placenta wer e normally glycosylated in the affected fetus. Maternal or placental factors tha t partially compensate for the glycosylation defect in the fetal stage must be p roposed and may be relevant for the therapy of these disorders in the future. | Denecke J. Kranz C. Von Kleist-Retzow J.Ch. 王经纬 | 2006 | 世界核心医学期刊文摘(儿科学分册)2006，0，1： | 0 |
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