Keir G, Winchester B G, Clayton P
Department of Neuroimmunology, National Hospital for Neurology and Neurosurgery, London, UK.
Ann Clin Biochem. 1999 Jan;36 ( Pt 1):20-36. doi: 10.1177/000456329903600103.
The carbohydrate-deficient glycoprotein (CDG) syndromes (CDGS) are a series of autosomal recessive enzyme deficiencies which result in incomplete glycosylation of plasma proteins. CDGS types Ia and Ib have been related to deficiencies of phosphomannomutase and phosphomannose isomerase, respectively, while CDGS type II results from a deficiency of N-acetylglucosaminyltransferase II. Secondary CDG syndromes are associated with galactosaemia and hereditary fructose intolerance. The diagnosis of CDGS is most easily made by studying the glycoforms of suitable marker proteins using either electrophoresis or isoelectric focusing. This paper reviews the structure of the glycan chains of proteins and structural alterations in CDGS. It also outlines analytical techniques which are useful in the laboratory study of protein glycoforms and the diagnosis of CDGS.
碳水化合物缺乏性糖蛋白（CDG）综合征（CDGS）是一系列常染色体隐性酶缺乏症，会导致血浆蛋白糖基化不完全。CDGS Ia型和Ib型分别与磷酸甘露糖变位酶和磷酸甘露糖异构酶缺乏有关，而CDGS II型是由N - 乙酰葡糖胺转移酶II缺乏引起的。继发性CDG综合征与半乳糖血症和遗传性果糖不耐受有关。通过使用电泳或等电聚焦研究合适标记蛋白的糖型，最容易做出CDGS的诊断。本文综述了蛋白质聚糖链的结构以及CDGS中的结构改变。它还概述了在蛋白质糖型的实验室研究和CDGS诊断中有用的分析技术。
