A Rapid Screening Method for the Measurement of Neonatal Total Homocysteine in Dried Blood Spots by Liquid Chromatography-Tandem Mass Spectrometry
| Autor: | Rola Fayez Mitri, Piero Rinaldo, Rose Maase, Dietrich Matern, Noura Younes, Coleman T. Turgeon, Lubna Hassan, Victor Anthony Skrinska |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Homocysteine Population Homocystinuria Tandem mass spectrometry homocystinuria 03 medical and health sciences chemistry.chemical_compound Immunology and Microbiology (miscellaneous) Liquid chromatography–mass spectrometry medicine education Newborn screening education.field_of_study Methionine Chromatography newborn screening Elution lcsh:RJ1-570 Obstetrics and Gynecology lcsh:Pediatrics homocysteine medicine.disease cystathionine-β-synthase deficiency 030104 developmental biology chemistry Pediatrics Perinatology and Child Health |
| Zdroj: | International Journal of Neonatal Screening; Volume 3; Issue 4; Pages: 32 International Journal of Neonatal Screening, Vol 3, Iss 4, p 32 (2017) |
| ISSN: | 2409-515X |
| DOI: | 10.3390/ijns3040032 |
| Popis: | Homocystinuria (HCU) due to cystathionine-β-synthase deficiency is generally regarded as a rare disease, but within the Qatari population has an incidence of 1 in 1800 live births. Most newborn screening methods for HCU using dried blood spots (DBS) rely on the detection of an elevated methionine level or a rapid screen for total homocysteine (tHCY). However, screening based on methionine levels alone lacks specificity and rapid liquid chromatography tandem mass spectrometry (LC-MS/MS) methods for tHCY exhibit variable results with high false positive rates. This report describes a LC-MS/MS method for detection of tHCY on DBS, with improved specificity. tHCY was extracted from DBS with a solution containing dithiothreitol and subsequently butylated with hydrochloric acid in n-butanol. The butyl esters were separated by liquid chromatography on a reverse-phase column and the homocysteine (HCY), detected by tandem mass spectrometry. The butyl ester of HCY eluted at 1.8 min. Total analysis time was 6.1 min per sample, including column flush and equilibration. This method allows for the quantification of tHCY over a linear range from 0.3 to 200 µM. Intraassay and interassay imprecision and recoveries were acceptable. Good concordance was observed with another LC-MS/MS method. Application of this method improves specificity and reduces false positive rates in screening for HCU. |
| Databáze: | OpenAIRE |
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