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

Homocystinuria, due to a deficiency of cystationine-β-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...

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Bibliographic Details
Published inJournal of Chromatography A Vol. 896; no. 1; pp. 183 - 189
Main Authors Accinni, Roberto, Bartesaghi, Silvia, De Leo, Giuseppe, Cursano, Cristina F, Achilli, Guido, Loaldi, Alessandro, Cellerino, Chiara, Parodi, Oberdan
Format Journal Article Conference Proceeding
LanguageEnglish
Published Amsterdam Elsevier B.V 27.10.2000
Elsevier
Subjects
Amino acids
Biological and medical sciences
Chromatography, High Pressure Liquid - methods
Electrochemistry
Homocysteine
Homocysteine - blood
Humans
Infant, Newborn
Investigative techniques, diagnostic techniques (general aspects)
Medical sciences
Metabolic diseases
Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques
Reproducibility of Results
Sensitivity and Specificity
Detection, LC
Amino acids
Electrochemical detection
Homocysteine
Human
Biological fluid
Chemical analysis
HPLC chromatography
Metabolic diseases
Enzymopathy
Blood
Electrochemical detector
Genetic disease
Sulfur containing aminoacid
Reversed phase chromatography
Homocystinuria
Analysis method
Newborn
Clinical biology
Diagnosis
Aminoacid disorder
Quantitative analysis
Coulometry
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Summary:Homocystinuria, due to a deficiency of cystationine-β-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=10.36 x+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.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
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ISSN:0021-9673
DOI:10.1016/S0021-9673(00)00715-9