Newborn population screening for classic homocystinuria by determination of total homocysteine from guthrie cards

• Verfasst von: Gan-Schreier, Hongying [VerfasserIn]
• Verfasst von: Kebbewar, Moustafa [VerfasserIn]
• Verfasst von: Fang-Hoffmann, Junmin [VerfasserIn]
• Verfasst von: Wilrich, Julia [VerfasserIn]
• Verfasst von: Abdoh, Ghassan [VerfasserIn]
• Verfasst von: Ben-Omran, Tawfeg [VerfasserIn]
• Verfasst von: Shahbek, Noora [VerfasserIn]
• Verfasst von: Bener, Abdulbari [VerfasserIn]
• Verfasst von: Al Rifai, Hilal [VerfasserIn]
• Verfasst von: Al Khal, Abdul Latif [VerfasserIn]
• Verfasst von: Lindner, Martin [VerfasserIn]
• Verfasst von: Zschocke, Johannes [VerfasserIn]
• Verfasst von: Hoffmann, Georg F. [VerfasserIn]
• Titel: Newborn population screening for classic homocystinuria by determination of total homocysteine from guthrie cards
• Verf.angabe: Hongying Gan-Schreier, PhD, Moustafa Kebbewar, Junmin Fang-Hoffmann, MD, Julia Wilrich, MD, Ghassan Abdoh, MD, Tawfeg Ben-Omran, MD, Noora Shahbek, MD, Abdulbari Bener, MD, Hilal Al Rifai, MD, Abdul Latif Al Khal, MD, Martin Lindner, MD, Johannes Zschocke, MD, PhD,and Georg F. Hoffmann, MD
• E-Jahr: 2010
• Jahr: March 2010
• Umfang: 6 S.
• Fussnoten: Online veröffentlicht am 14. November 2009 ; Gesehen am 31.07.2023
• Titel Quelle: Enthalten in: The journal of pediatrics
• Ort Quelle: St. Louis, Mo. : Mosby, 1932
• Jahr Quelle: 2010
• Band/Heft Quelle: 156(2010), 3 vom: März, Seite 427-432
• ISSN Quelle: 1097-6833
• DOI: doi:10.1016/j.jpeds.2009.09.054
• Datenträger: Online-Ressource
• Sprache: eng
• K10plus-PPN: 1853920010

Abstract

Objective - To allow early recognition of cystathionine β-synthase by newborn screening. - Study design - Total homocysteine was determined in dried blood spots with a novel, robust high-performance liquid chromatography method with tandem mass spectrometry. Quantification of homocysteine was linear over a working range up to 50 μmol/L. For mutation analysis, DNA was tested for 2 mutations common in Qatar. - Results - Both methods proved to be suitable for high throughput processing. In 2 years, 7 infants with classic homocystinuria were identified of 12 603 native Qatari infants, yielding an incidence of 1:1800. Molecular screening would have missed 1 patient homozygous for a mutation not previously identified in the Qatari population. Over a period of 3 years, a total of 14 cases of classic homocystinuria were detected by screening of homocysteine from all newborn infants born in Qatar (n = 46 406). Homocysteine was always elevated, whereas methionine was elevated in only 7 cases. - Conclusions - The study offers a reliable method for newborn screening for cystathionine β-synthase deficiency, reaching a sensitivity of up to 100%, even if samples are taken within the first 3 days of life.