Article (Scientific journals)
Surprising causes of C5-carnitine false positive results in newborn screening.
BOEMER, François; SCHOOS, Roland; de HALLEUX, Virginie et al.
2014In Molecular Genetics and Metabolism, 111 (1), p. 52-4
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Keywords :
C5-carnitine; False positive; Inborn error of metabolism; Mass spectrometry; Newborn screening; Pivalic acid
Abstract :
[en] During an 18-month period, we noticed an alarming increase of newborn screening false positivity rate in identifying isovaleric acidemia. In 50 of 50 newborns presenting elevated C5-carnitine, we confirmed the presence of pivaloylcarnitine. Exogenous pivalate administration had been previously identified as the causal agent of this concern. No pivalic-ester prodrug is commercially available in Belgium, but pivalic derivates are also used in the cosmetic industry as emollient under the term "neopentanoate". We have identified neopentanoate-esters in a nipple-fissure unguent that was provided to young mothers. Ceasing distribution of this product hugely reduced the C5-carnitine false positivity rate.
Disciplines :
Genetics & genetic processes
Author, co-author :
BOEMER, François  ;  Centre Hospitalier Universitaire de Liège - CHU > Génétique
SCHOOS, Roland ;  Centre Hospitalier Universitaire de Liège - CHU > Génétique
de HALLEUX, Virginie ;  Centre Hospitalier Universitaire de Liège - CHU > Néonatologie CHR
Kalenga, Masendu ;  Université de Liège - ULiège > Département des sciences cliniques > Néonatologie
DEBRAY, François-Guillaume ;  Centre Hospitalier Universitaire de Liège - CHU > Génétique
Language :
English
Title :
Surprising causes of C5-carnitine false positive results in newborn screening.
Publication date :
2014
Journal title :
Molecular Genetics and Metabolism
ISSN :
1096-7192
eISSN :
1096-7206
Publisher :
Elsevier, Atlanta, Georgia
Volume :
111
Issue :
1
Pages :
52-4
Peer reviewed :
Peer Reviewed verified by ORBi
Commentary :
Copyright (c) 2013 Elsevier Inc. All rights reserved.
Available on ORBi :
since 20 January 2014

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