Grunewald Stephanie, Matthijs Gert, Jaeken Jaak
Children's University Hospital Essen, 45122 Essen, Germany.
Pediatr Res. 2002 Nov;52(5):618-24. doi: 10.1203/00006450-200211000-00003.
Congenital disorders of glycosylation (CDGs) are a rapidly growing group of inherited disorders caused by defects in the synthesis and processing of the asparagine(ASN)-linked oligosaccharides of glycoproteins. The first CDG patients were described in 1980. Fifteen years later, a phosphomannomutase deficiency was found as the basis of the most frequent type, CDG-Ia. In recent years several novel types have been identified. The N-glycosylation pathway is highly conserved from yeast to human, and the rapid progress in this field can largely be attributed to the systematic application of the knowledge of yeast mutants. Up to now, eight diseases have been characterized, resulting from enzyme or transport defects in the cytosol, endoplasmic reticulum, or Golgi compartment. CDGs affect all organs and particularly the CNS, except for CDG-Ib, which is mainly a hepatic-intestinal disease.
先天性糖基化障碍（CDGs）是一类迅速增多的遗传性疾病，由糖蛋白中天冬酰胺（ASN）连接的寡糖合成和加工缺陷引起。首例CDG患者于1980年被描述。15年后，发现磷酸甘露糖变位酶缺乏是最常见类型CDG-Ia的病因。近年来，又鉴定出几种新类型。从酵母到人类，N-糖基化途径高度保守，该领域的快速进展很大程度上归功于酵母突变体知识的系统应用。到目前为止，已确定了8种疾病，它们是由胞质溶胶、内质网或高尔基体区室中的酶或转运缺陷导致的。除主要为肝肠疾病的CDG-Ib外，CDGs影响所有器官，尤其是中枢神经系统。
