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

The Journal of Pediatrics
Hongying Gan-SchreierGeorg F Hoffmann

Abstract

To allow early recognition of cystathionine beta-synthase by newborn screening. 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 micromol/L. For mutation analysis, DNA was tested for 2 mutations common in Qatar. 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. The study offers a reliable method for newborn screening for cystathionine beta-synthase deficiency, reaching a sensitivity of up to 100%, even if samples are taken within the first 3 days of life.

References

May 20, 1998·European Journal of Pediatrics·E R NaughtenP D Mayne
Jan 30, 2003·Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences·Roberto AccinniOberdan Parodi
Mar 27, 1964·Science·S H MUDDL LASTER
Aug 17, 2006·Paediatric and Perinatal Epidemiology·Abdulbari Bener, Rafat Hussain
Apr 17, 2009·Human Mutation·Johannes ZschockeGeorg F Hoffmann

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Citations

Jun 23, 2010·Journal of Inherited Metabolic Disease·Dau-Ming NiuKwang-Jen Hsiao
Jun 22, 2011·Orphanet Journal of Rare Diseases·Martin LindnerGeorg F Hoffmann
Jul 16, 2014·Journal of Inherited Metabolic Disease·Sowmiya MoorthieHilary Burton
Oct 22, 2013·Pediatric Neurology·Ilene S RuhoyCatherine Amlie-Lefond
Feb 23, 2012·Molecular Genetics and Metabolism·Yung-Hsiu LuDau-Ming Niu
Nov 4, 2011·Anales de pediatría : publicación oficial de la Asociación Española de Pediatría (A.E.P.)·M C García-JiménezN Lambruschini
Sep 25, 2014·Mass Spectrometry Reviews·Michel WagnerGérard Hopfgartner
Mar 13, 2015·Journal of Inherited Metabolic Disease·Martina HuemerHenk J Blom
Feb 11, 2011·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·S Harvey Mudd
Dec 3, 2014·Journal of the Neurological Sciences·Fatemeh SuriElahe Elahi
Oct 26, 2016·Journal of Inherited Metabolic Disease·Andrew A M MorrisKimberly A Chapman
Oct 2, 2015·The Cochrane Database of Systematic Reviews·John H WalterTracey Remmington
Sep 29, 2018·Molecular Genetics & Genomic Medicine·Nader Al-DewikTawfeg Ben-Omran
Feb 12, 2019·Journal of Inherited Metabolic Disease·Rebecca KellerMaximilian Zeyda
Jul 31, 2013·Clinical Chemistry·David HaarburgerGeorge van der Watt
Oct 30, 2010·Clinical Chemistry·Olajumoke OladipoMarwan Shinawi
Nov 1, 2018·Clinical Chemistry·Lizbeth Mellin-Sanchez, Neal Sondheimer
Feb 26, 2019·Scientific Reports·Marta SikoraHieronim Jakubowski
Apr 2, 2020·Molecular Genetics & Genomic Medicine·Giovana R Weber HossHenk J Blom
Jun 27, 2018·Journal of Inherited Metabolic Disease·R KellerM Zeyda
Jun 27, 2019·Journal of Inherited Metabolic Disease·Sapna GuptaWarren D Kruger
Apr 5, 2020·Genes·Duaa W Al-Sadeq, Gheyath K Nasrallah
Feb 1, 2020·Genome Medicine·Song SunFrederick P Roth
Oct 2, 2020·The Journal of Nutrition·Viktor Kožich, Sally Stabler
Dec 16, 2020·Expert Review of Proteomics·Hieronim Jakubowski
Sep 12, 2020·Nutrition, Metabolism, and Cardiovascular Diseases : NMCD·Alessandro Di MinnoMatteo N D Di Minno
Nov 27, 2020·International Journal of Neonatal Screening·Kenji YamadaSeiji Yamaguchi
Mar 19, 2021·Molecular Genetics and Metabolism Reports·Gwendolyn GramerJulia B Hennermann
Aug 28, 2021·International Journal of Neonatal Screening·Hind AlsharhanLaila Bastaki
Oct 10, 2021·Journal of Inherited Metabolic Disease·Kimberly A KrippsPeter R Baker

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