Raising Awareness of False Positive Newborn Screening Results Arising from Pivalate-Containing Creams and Antibiotics in Europe When Screening for Isovaleric Acidaemia
Bonham, J; Carling, R; Lindner, Met al.
2018 • In International Journal of Neonatal Screening
BOEMER, François ; Centre Hospitalier Universitaire de Liège - CHU > Service de génétique
Cerone, R
Eyskens, F
Vilarinho, L
Hougaard, D
Schielen, P
Language :
English
Title :
Raising Awareness of False Positive Newborn Screening Results Arising from Pivalate-Containing Creams and Antibiotics in Europe When Screening for Isovaleric Acidaemia
Publication date :
January 2018
Journal title :
International Journal of Neonatal Screening
eISSN :
2409-515X
Publisher :
Multidisciplinary Digital Publishing Institute (MDPI), Basel, Switzerland
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Hewlett, J.; Waisbren, S.E. A review of the psychosocial effects of false-positive results on parents and current communication practices in newborn screening. J. Inherit. Metab. Dis. 2006, 29, 677-682. [CrossRef] [PubMed]
Abdenur, J.E.; Chamoles, N.A.; Guinle, A.E.; Schenone, A.B.; Fuertes, A.N.J. Diagnosis of isovaleric acidaemia by tandem mass spectrometry: False positive result due to pivaloylcarnitine in a newborn screening programme. J. Inherit. Metab. Dis. 1998, 21, 624-630. [CrossRef] [PubMed]
Boemer, F.; Schoos, R.; de Halleux, V.; Kalenga, M.; Debray, F.G. Surprising causes of C5-carnitine false positive results in newborn screening. Mol. Genet. Metab. 2014, 111, 52-54. [CrossRef] [PubMed]
Carling, R.S.; Burden, D.; Hutton, I.; Randle, R.; John, K.; Bonham, J.R. Introduction of a Simple Second Tier Screening Test for C5 Isobars in Dried Blood Spots: Reducing the False Positive Rate for Isovaleric Acidaemia in Expanded Newborn Screening. J. Inherit. Metab. Dis. 2017. [CrossRef]
Yamada, K.; Kobayashi, H.; Bo, R.; Takahashi, T.; Hasegawa, Y.; Nakamura, M.; Ishige, N.; Yamaguchi, S. Elevation of pivaloylcarnitine by sivelestat sodium in two children. Mol. Genet. Metab. 2015, 116, 192-194. [CrossRef] [PubMed]
Minkler, P.E.; Stoll, M.S.K.; Ingalls, S.T.; Hoppel, C.L. Selective and accurate C5 acylcarnitine quantitation by UHPLC-MS/MS: Distinguishing true isovaleric acidemia from pivalate derived interference. J. Chromatogr. B Anal. Technol. Biomed. Life Sci. 2017, 1061-1062, 128-133. [CrossRef] [PubMed]
