The isodecyl neopentanoate is an ingredient used in the cosmetic industry to prepare a nipple fissure balm.We report on 12 newborns that showed elevated C5-acylcarnitine levels upon newborn screening following treatment with balm. The first 3 neonates were immediately recalled for confirmatory tests and resulted negative for both isovaleric acidemia and short/branched chain acyl-CoA dehydrogenase deficiency. In the other 9 cases, the immediate recall was avoided by applying a new second-tier test able to confirm the presence of pivaloylcarnitine. The concentration of C5-acylcarnitine was measured in the days following the suspension of balm application. Abnormal concentrations of C5-acylcarnitine did not seem to be associated with free carnitine deficiency, probably due to the short time of exposure. A direct correlation between balm ingestion and the elevation in pivaloylcarnitine has been demonstrated in 10 adult volunteers. The commercial balm containing a pivalic acid derivative is causal of false-positive results during newborn screening, and it could have the potential to cause secondary carnitine deficiency when used chronically.

Reducing the False-Positive Rate for Isovalerylcarnitine in Expanded Newborn Screening: The Application of a Second-Tier Test / Poggiali, S.; Ombrone, D.; Forni, G.; Malvagia, S.; Funghini, S.; Mura, M.; Pasquini, E.; Santoro, L.; Bellavia, V.; Granata, O. M.; Castana, C.; Mcgreevy, K. S.; Aronica, T. S.; la Marca, G.. - In: JOURNAL OF INBORN ERRORS OF METABOLISM AND SCREENING. - STAMPA. - 4:(2016), pp. 1-7. [10.1177/2326409816661355]

Reducing the False-Positive Rate for Isovalerylcarnitine in Expanded Newborn Screening: The Application of a Second-Tier Test

OMBRONE, DANIELA;LA MARCA, GIANCARLO
2016

Abstract

The isodecyl neopentanoate is an ingredient used in the cosmetic industry to prepare a nipple fissure balm.We report on 12 newborns that showed elevated C5-acylcarnitine levels upon newborn screening following treatment with balm. The first 3 neonates were immediately recalled for confirmatory tests and resulted negative for both isovaleric acidemia and short/branched chain acyl-CoA dehydrogenase deficiency. In the other 9 cases, the immediate recall was avoided by applying a new second-tier test able to confirm the presence of pivaloylcarnitine. The concentration of C5-acylcarnitine was measured in the days following the suspension of balm application. Abnormal concentrations of C5-acylcarnitine did not seem to be associated with free carnitine deficiency, probably due to the short time of exposure. A direct correlation between balm ingestion and the elevation in pivaloylcarnitine has been demonstrated in 10 adult volunteers. The commercial balm containing a pivalic acid derivative is causal of false-positive results during newborn screening, and it could have the potential to cause secondary carnitine deficiency when used chronically.
2016
4
1
7
Poggiali, S.; Ombrone, D.; Forni, G.; Malvagia, S.; Funghini, S.; Mura, M.; Pasquini, E.; Santoro, L.; Bellavia, V.; Granata, O. M.; Castana, C.; Mcgreevy, K. S.; Aronica, T. S.; la Marca, G.
File in questo prodotto:
File Dimensione Formato  
FPC5.pdf

accesso aperto

Tipologia: Pdf editoriale (Version of record)
Licenza: Open Access
Dimensione 598.43 kB
Formato Adobe PDF
598.43 kB Adobe PDF

I documenti in FLORE sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/1062093
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 4
  • ???jsp.display-item.citation.isi??? ND
social impact