碳水化合物缺乏转铁蛋白（CDT）作为筛查先天性糖基化障碍（CDG）的生化工具。
Carbohydrate-deficient transferrin (CDT) as a biochemical tool for the screening of congenital disorders of glycosylation (CDGs).
作者信息
Biffi Stefania, Tamaro Giorgio, Bortot Barbara, Zamberlan Silvia, Severini Giovanni Maria, Carrozzi Marco
机构信息
Laboratory for Encephalomyopathies of the Neuropsychiatric Ward, Institute of Child Health IRCCS Burlo Garofolo - Trieste, Italy.
出版信息
Clin Biochem. 2007 Dec;40(18):1431-4. doi: 10.1016/j.clinbiochem.2007.08.015. Epub 2007 Sep 6.
OBJECTIVE
The aim of this study was to provide a tool based on CDT measurements for a diagnostic approach to identify patients affected by congenital disorders of glycosylation (CDG) in a selected population.
DESIGN AND METHODS
Serum carbohydrate-deficient transferrin (CDT) of pediatric and adult patients (a total of 168 individuals) with neurological symptoms was analyzed. Abnormal results were confirmed by HPLC analysis and by enzymatic and molecular studies.
RESULTS
We found 6 patients (3.8%) with abnormal serum CDT; only two of them (1.9%) showed increased amounts of disialo and asialo with HPLC analysis and were classified as CDG-Ia, the most frequent form of CDG, due to a deficiency of the phosphomannomutase enzyme.
CONCLUSIONS
The CDT quantitative immunoturbidimetric procedure is a useful tool for CDG screening. HPLC analysis, however, permitted the correct identification of asialo and disialo transferrin concentrations.
目的
本研究的目的是提供一种基于转铁蛋白碳水化合物缺乏（CDT）测量的工具，用于在特定人群中诊断先天性糖基化障碍（CDG）患者。
设计与方法
分析了患有神经症状的儿科和成年患者（共168人）的血清碳水化合物缺乏转铁蛋白（CDT）。通过高效液相色谱（HPLC）分析以及酶学和分子研究证实异常结果。
结果
我们发现6例患者（3.8%）血清CDT异常；其中只有2例（1.9%）在HPLC分析中显示二唾液酸和无唾液酸转铁蛋白含量增加，由于磷酸甘露糖变位酶缺乏，被归类为最常见的CDG形式CDG-Ia。
结论
CDT定量免疫比浊法是CDG筛查的有用工具。然而，HPLC分析能够正确识别无唾液酸和二唾液酸转铁蛋白的浓度。
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