Literature DB >> 1873916

Determination of medium chain acyl-CoA dehydrogenase activity in cultured skin fibroblasts using mass spectrometry.

K E Niezen-Koning1, T E Chapman, I E Mulder, G P Smit, D J Reijngoud, R Berger.   

Abstract

Medium chain acyl-CoA dehydrogenase deficiency, a defect of mitochondrial beta-oxidation, is one of the most frequently occurring among inborn errors of metabolism. We describe a rapid and sensitive gas chromatographic/mass spectrometric method allowing reliable assessment of medium chain acyl-CoA dehydrogenase activity in cultured skin fibroblasts. We investigated MCAD activity in three presumed medium chain acyl-CoA dehydrogenase deficient (MCADD) patients and 10 control subjects. The medium chain acyl-CoA dehydrogenase activity determined in three patients was 1.0 +/- 0.4 nmol.min-1.mg-1 protein (mean +/- SD; range: 0.6-1.4) and in controls it was 2.8 +/- 1.0 nmol.min-1.mg-1 protein (mean +/- SD; range: 1.6-4.4).

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Year:  1991        PMID： 1873916     DOI： 10.1016/0009-8981(91)90109-p

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


  3 in total

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

Authors:  T G J Derks; T S Boer; A van Assen; T Bos; J Ruiter; H R Waterham; K E Niezen-Koning; R J A Wanders; J M M Rondeel; J G Loeber; L P Ten Kate; G P A Smit; D-J Reijngoud
Journal:  J Inherit Metab Dis       Date:  2008-01-14       Impact factor: 4.982

2.  A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns.

Authors:  Frank ter Veld; Martina Mueller; Simone Kramer; Ulrike Haussmann; Diran Herebian; Ertan Mayatepek; Maurice D Laryea; Sonja Primassin; Ute Spiekerkoetter
Journal:  PLoS One       Date:  2009-07-30       Impact factor: 3.240

3.  In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes.

Authors:  Catharina M L Touw; G Peter A Smit; Klary E Niezen-Koning; Conny Bosgraaf-de Boer; Albert Gerding; Dirk-Jan Reijngoud; Terry G J Derks
Journal:  Orphanet J Rare Dis       Date:  2013-03-20       Impact factor: 4.123
  3 in total

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