期刊
JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES
卷 785, 期 2, 页码 219-226出版社
ELSEVIER
DOI: 10.1016/S1570-0232(02)00852-8
关键词
newborn screening; homocystinuria; homocysteine; homocystine
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 muM (range 0.4-7.5). In eight homocystinuric control children, mean values were 61.71 +/- 52.84 muM (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. (C) 2002 Elsevier Science B.V. All rights reserved.
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