Istituto di Fisiologia Clinica     
Accinni R., Campolo J., Parolini M., De Maria R., Caruso R., Maiorana A., Galluzzo C., Bartesaghi S., Melotti D., Parodi O. Newborn screening of homocystinuria: quantitative analysis of total homocyst(e)ine on dried blood spot by liquid chromatography with fluorimetric detection. In: Journal of cromatography Serie B, vol. 785 pp. 219 - 226. Elsevier Inc, 2003.
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 2.922.07 μM (range 0.4-7.5). In eight homocystinuric control children, mean values were 61.7152.84 μM (range 18.9-145.7). The method showed a good linearity (r=0.999), precision (RSD<7%) and recovery (95%). The correlation between blood spots and plasma samples was r=0.90. This method has all the essential features for a homocystinuria screening program: an easy and rapid pre-analytical step combined with method linearity and precision.
URL: http://www.sciencedirect.com/science?_ob=MImg&_imagekey=B6X0P-475JTJK-5-C&_cdi=7220&_user=10&_orig=search&_coverDate=03%2F05%2F2003&_sk=992149997&view=c&wchp=dGLbVzz-zSkzS&md5=f098b75e9c6d6335a022227e5502eaa9&ie=/sdarticle.pdf
Subject Homocysteine

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