Newborn screening of homocystinuria: quantitative analysis of total homocyst(e)ine on dried blood spot by liquid chromatography with fluorimetric detection
- 作者：Accinni ; Roberto ; Campolo ; Jonica ; Parolini ; Marina ; De Maria ; Renata ; Caruso ; Raffaele ; Maiorana ; Andrea ; et. al.
- 关键词：Newborn screening ; Homocystinuria ; Homocysteine ; Homocystine ; HCU ; homocystinuria ; Hcy ; homocyst(e)ine ; BIA ; bacterial inhibition assay ; PWB ; pooled whole blood ; CBS ; cystathionine-β ; -synthase ; MTHFR ; methylene-tetrahydrofolate reductase ; SD ; standard
- 刊名：Journal of Chromatography B ; Analytical Technologies in the Biomedical and Life Sciences
- 出版年：2003
- 期刊代码：124_15700232
- 类别：ch
- 出版时间：March 5, 2003
- 卷：785
- 期：2
- 页码：219-226
- 文件大小：382 K
摘要
Identification of homocystinuric newborns is hindered by the pitfalls of neonatal screening programs. We propose a fluorimetric HPLC method with a rapid pre-analytical step for homocysteine determination from neonatal dried blood spot cards. Homocysteine in blood spots sampled among 2000 healthy newborns on living day 4, averaged 2.92±2.07 μM (range 0.4–7.5). In eight homocystinuric control children, mean values were 61.71±52.84 μM (range 18.9–145.7). The method showed a good linearity (r