Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency

Journal of Inherited Metabolic Disease
Terry G J DerksD-J Reijngoud

Abstract

The outcome was determined of population-wide neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (MS/MS) in The Netherlands, between October 2003 and September 2005. Prospective population-wide neonatal screening for MCAD deficiency was performed in the northern part of The Netherlands. In newborns with blood octanoylcarnitine (C(8:0)) concentrations > or =0.3 micromol/L, clinical and laboratory follow-up was initiated, including MCAD enzymatic measurements which played a decisive role. In a 2-year period, 66 216 newborns were investigated for MCAD deficiency and follow-up was initiated in 28 newborns. True-positives (n = 14) were identified based upon MCAD enzyme activity <50%, measured with hexanoyl-CoA as substrate. The observed prevalence of MCAD deficiency was 1/6600 (95% CI: 1/4100-1/17 400). In addition to an elevated C(8:0) concentration, a C(8:0)/C(10:0) molar ratio >5.0 turned out to differentiate between false-positives and true-positives. Measurement of MCAD activity using phenylpropionyl-CoA as a substrate further discriminated between newborns with MCAD deficiency and so-called mild MCAD deficiency. To summarize, neonatal screening for MCAD deficiency in the...Continue Reading

Associated Clinical Trials

Dec 3, 2018·Terry G.J. Derks, MD, PhD

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Citations

Mar 21, 2013·Orphanet Journal of Rare Diseases·Catharina M L TouwTerry G J Derks
Aug 24, 2013·PLoS Computational Biology·Karen van EunenBarbara M Bakker
Jan 17, 2012·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·F FeilletUNKNOWN SFEIM (Société française pour l’étude des erreurs innées du métabolisme)
Nov 13, 2012·Molecular Genetics and Metabolism·Kaitlyn KormanikAl-Walid Mohsen
May 1, 2012·Molecular Genetics and Metabolism·Brage Storstein AndresenNiels Gregersen
Jun 1, 2015·Zdravstveno Varstvo·Andraž ŠmonTadej Battelino
Jul 17, 2012·Molecular Genetics and Metabolism·Jamiyan PurevsurenSeiji Yamaguchi
Oct 4, 2012·Molecular Genetics and Metabolism·S Mercimek-MahmutogluG S Salomons
Jul 14, 2010·Annals of Saudi Medicine·Hissa MoammarNouriya Al-Sannaa
Apr 4, 2017·PLoS Computational Biology·Anne-Claire M F MartinesBarbara M Bakker
Jan 11, 2018·Journal of Inherited Metabolic Disease·D-J Reijngoud
Mar 4, 2009·Journal of Inherited Metabolic Disease·J H Walter
Jul 27, 2017·Journal of Applied Microbiology·M Arevalo-VillenaA Bevilacqua
May 11, 2013·Aging & Mental Health·Abhijit NadkarniRahul Rao
Sep 22, 2020·PloS One·Onne A H O RondaHenkjan J Verkade
Nov 6, 2020·International Journal of Neonatal Screening·Willemijn J van RijtM Rebecca Heiner-Fokkema
Feb 14, 2021·Journal of Inherited Metabolic Disease·Sara TucciUte Spiekerkoetter
May 19, 2021·Médecine sciences : M/S·Guy TouatiJérôme Ausseil

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