Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry - 10/08/11
Reprint requests: Ute Spiekerkoetter, MD, Department of General Pediatrics, University Children′s Hospital, Moorenstrasse 5, D-40225 Düsseldorf, Germany.Résumé |
Neonatal screening programs for very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD) have recently been implemented. We report 2 newborns with elevated C14:1-carnitine levels on day 3 of life and normal levels on days 5 to 7. Enzyme and molecular analyses confirmed VLCADD in the first patient and heterozygosity in the second patient. We conclude that the diagnosis of VLCADD can be missed by acylcarnitine analysis during anabolic conditions. An increased C14:1-carnitine level can also occur in heterozygous individuals. Elevated C14:1-carnitine level on neonatal screening warrants further diagnostic workup even if a repeat sample demonstrates normal acylcarnitine levels.
Le texte complet de cet article est disponible en PDF.Abbreviations : MS/MS, VLCAD, VLCADD
| Supported by a grant from the Forschungskommission der Medizinischen Fakultät der Heinrich Heine Universität Düsseldorf. Ina Schymik and Michaela Liebig contributed equally to this study. |
Vol 149 - N° 1
P. 128-130 - juillet 2006 Retour au numéro
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