Leroy Jules G
Department of Pediatrics, Ghent University School of Medicine and University, B-9000 Ghent, Belgium.
Pediatr Res. 2006 Dec;60(6):643-56. doi: 10.1203/01.pdr.0000246802.57692.ea. Epub 2006 Oct 25.
The congenital disorders of N-glycosylation (CDG), a steadily increasing group of multi-systemic disorders, have severe clinical implications in infancy and early childhood. The various inborn errors responsible adversely affect N-glycosylation of lysosomal proteins because of either failing assembly of lipid-linked (LL) oligosaccharides (OS) in the endoplasmic reticulum, CDG Type I, or faulty processing of the asparagines (N)-linked OS in the ER and in the Golgi, CDG Type II. The overlap of phenotypes precludes specific clinical delineation. Isoelectric focusing (IEF) of plasma transferrin remains a valuable, albeit imperfect, screening tool. IEF of plasma ApoC-III protein, introduced O-glycosylation defects that delineated some new CDGs due to mutations of both N- and O-glycosylation. Only CDG-Ib is amenable to treatment with free mannose supplementation. Hence, early specific diagnosis of any one entity is crucial for genetic counseling and elective preventive measures.
先天性糖基化障碍（CDG）是一类不断增加的多系统疾病，在婴儿期和幼儿期具有严重的临床影响。由于内质网中脂质连接（LL）寡糖（OS）组装失败（I型CDG），或内质网和高尔基体中天冬酰胺（N）连接的OS加工错误（II型CDG），各种先天性代谢缺陷会对溶酶体蛋白的N-糖基化产生不利影响。表型的重叠使得无法进行具体的临床诊断。血浆转铁蛋白的等电聚焦（IEF）仍然是一种有价值的筛查工具，尽管并不完美。血浆载脂蛋白C-III蛋白的IEF引入了O-糖基化缺陷，由于N-糖基化和O-糖基化的突变，这些缺陷界定了一些新的CDG。只有I型CDG中的Ib型可通过补充游离甘露糖进行治疗。因此，对任何一种疾病进行早期特异性诊断对于遗传咨询和选择性预防措施至关重要。
