Identification of homocystinuric newborn is hindered by the pitfalls of neonatal sceening programs. We propose a fluorimentric HPLC method with a rapid pre-analytica 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 mM (range 0.4-7.5). In eight homocystinuric control children, mean values were 61.71 ± 52.84 mM (range 18.9-145.7). The method showed a good linearity (r = 0.999), precision (RDS<7%) and recovery (95%). The correlation between blood spots and rapid pre-analytical step combined with method linearity and precision.

Newborn screening of homocystinuria: quantitative analysis of total homocyst(e)ine on dried blood spot by liquid chromatohraphy with fluorimetric detection

2003

Abstract

Identification of homocystinuric newborn is hindered by the pitfalls of neonatal sceening programs. We propose a fluorimentric HPLC method with a rapid pre-analytica 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 mM (range 0.4-7.5). In eight homocystinuric control children, mean values were 61.71 ± 52.84 mM (range 18.9-145.7). The method showed a good linearity (r = 0.999), precision (RDS<7%) and recovery (95%). The correlation between blood spots and rapid pre-analytical step combined with method linearity and precision.
2003
Istituto di Fisiologia Clinica - IFC
screening neonatale
omocistinuria
omocisteina
omocistina
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.14243/432062
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