Homocystinuria, due to a deficiency of cystationine-beta-synthase, refers to the rare inborn error of the metabolism of homocysteine. The identification and prompt treatment of homocystinuria during the neonatal period can prevent or greatly reduce the severity of the clinical consequences. We report a new method for homocystinuria diagnosis from dried blood spots on newborn screening cards, based on high-performance liquid chromatography with electrochemical coulometric array detection. This method shows an excellent linearity (y=10.36x+0.04; r=0.999), precision (RSDs ranged from 2.7 to 5.8%), recovery (87%) and appears to be a cost-effective approach, being simple, rapid, sensitive and cheap.
|Titolo:||Screening of homocysteine from newborn blood spots by high-performance liquid chromatography with coulometric array detection|
|Parole Chiave:||Sensitivity and Specificity ; Reproducibility of Results ; Humans ; Infant, Newborn ; Electrochemistry ; Homocysteine ; Chromatography, High Pressure Liquid|
|Settore Scientifico Disciplinare:||Settore MED/11 - Malattie dell'Apparato Cardiovascolare|
|Data di pubblicazione:||27-ott-2000|
|Digital Object Identifier (DOI):||10.1016/S0021-9673(00)00715-9|
|Appare nelle tipologie:||01 - Articolo su periodico|