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.

Screening of homocysteine from newborn blood spots by high-performance liquid chromatography with coulometric array detection / R. Accinni, S. Bartesaghi, G. De Leo, C.F. Cursano, G. Achilli, A. Loaldi, C. Cellerino, O. Parodi. - In: JOURNAL OF CHROMATOGRAPHY A. - ISSN 0021-9673. - 896:1-2(2000 Oct 27), pp. 183-189.

Screening of homocysteine from newborn blood spots by high-performance liquid chromatography with coulometric array detection

A. Loaldi;
2000

Abstract

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.
Sensitivity and Specificity ; Reproducibility of Results ; Humans ; Infant, Newborn ; Electrochemistry ; Homocysteine ; Chromatography, High Pressure Liquid
Settore MED/11 - Malattie dell'Apparato Cardiovascolare
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/187424
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