Surprising causes of C5-carnitine false positive results in newborn screening.

[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 :

Pages :

52-4

Peer reviewed :

Peer Reviewed verified by ORBi

Commentary :

Available on ORBi :

since 20 January 2014

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Bibliography

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