Reducing the False-Positive Rate for Isovalerylcarnitine in Expanded Newborn Screening

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 test...

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Main Authors:	Sara Poggiali BSc, MT, Daniela Ombrone BSc, Giulia Forni BSc, Sabrina Malvagia BSc, Silvia Funghini BSc, PhD, Massimo Mura Pharm Sc, Elisabetta Pasquini MD, Laura Santoro BSc, Vincenzo Bellavia BSc, Orazia Maria Granata BSc, Cinzia Castana MD, Kathleen S. McGreevy PhD, Tommaso Silvano Aronica MD, Giancarlo la Marca Pharm Sc
Format:	Article
Language:	English
Published:	SciELO 2016-07-01
Series:	Journal of Inborn Errors of Metabolism and Screening
Online Access:	https://doi.org/10.1177/2326409816661355

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spelling	doaj-fb13150cf4ed4cc785419f2a25b2917f2020-11-25T01:40:36ZengSciELOJournal of Inborn Errors of Metabolism and Screening 2326-45942016-07-01410.1177/232640981666135510.1177_2326409816661355Reducing the False-Positive Rate for Isovalerylcarnitine in Expanded Newborn ScreeningSara Poggiali BSc, MT0Daniela Ombrone BSc1Giulia Forni BSc2Sabrina Malvagia BSc3Silvia Funghini BSc, PhD4Massimo Mura Pharm Sc5Elisabetta Pasquini MD6Laura Santoro BSc7Vincenzo Bellavia BSc8Orazia Maria Granata BSc9Cinzia Castana MD10Kathleen S. McGreevy PhD11Tommaso Silvano Aronica MD12Giancarlo la Marca Pharm Sc13 Newborn Screening, Biochemistry and Pharmacology Laboratory, Pediatric Neurology Clinic and Laboratories, Meyer Children’s University Hospital, Florence, Italy Newborn Screening, Biochemistry and Pharmacology Laboratory, Pediatric Neurology Clinic and Laboratories, Meyer Children’s University Hospital, Florence, Italy Newborn Screening, Biochemistry and Pharmacology Laboratory, Pediatric Neurology Clinic and Laboratories, Meyer Children’s University Hospital, Florence, Italy Newborn Screening, Biochemistry and Pharmacology Laboratory, Pediatric Neurology Clinic and Laboratories, Meyer Children’s University Hospital, Florence, Italy Newborn Screening, Biochemistry and Pharmacology Laboratory, Pediatric Neurology Clinic and Laboratories, Meyer Children’s University Hospital, Florence, Italy Newborn Screening, Biochemistry and Pharmacology Laboratory, Pediatric Neurology Clinic and Laboratories, Meyer Children’s University Hospital, Florence, Italy Metabolic and Muscular Unit, Pediatric Neurology Clinic, Meyer Children’s University Hospital, Florence, Italy UOS Newborn Screening Center, UOC Pediatric Clinical Pathology, P.O.G. Di Cristina, Palermo, Italy UOS Newborn Screening Center, UOC Pediatric Clinical Pathology, P.O.G. Di Cristina, Palermo, Italy UOS Newborn Screening Center, UOC Pediatric Clinical Pathology, P.O.G. Di Cristina, Palermo, Italy UOC Pediatric Clinic, P.O.G. Di Cristina, Palermo, Italy Research, Innovation and International Relations Office, Meyer Children’s University Hospital, Florence, Italy UOS Newborn Screening Center, UOC Pediatric Clinical Pathology, P.O.G. Di Cristina, Palermo, Italy Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy.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.https://doi.org/10.1177/2326409816661355
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Sara Poggiali BSc, MT Daniela Ombrone BSc Giulia Forni BSc Sabrina Malvagia BSc Silvia Funghini BSc, PhD Massimo Mura Pharm Sc Elisabetta Pasquini MD Laura Santoro BSc Vincenzo Bellavia BSc Orazia Maria Granata BSc Cinzia Castana MD Kathleen S. McGreevy PhD Tommaso Silvano Aronica MD Giancarlo la Marca Pharm Sc
spellingShingle	Sara Poggiali BSc, MT Daniela Ombrone BSc Giulia Forni BSc Sabrina Malvagia BSc Silvia Funghini BSc, PhD Massimo Mura Pharm Sc Elisabetta Pasquini MD Laura Santoro BSc Vincenzo Bellavia BSc Orazia Maria Granata BSc Cinzia Castana MD Kathleen S. McGreevy PhD Tommaso Silvano Aronica MD Giancarlo la Marca Pharm Sc Reducing the False-Positive Rate for Isovalerylcarnitine in Expanded Newborn Screening Journal of Inborn Errors of Metabolism and Screening
author_facet	Sara Poggiali BSc, MT Daniela Ombrone BSc Giulia Forni BSc Sabrina Malvagia BSc Silvia Funghini BSc, PhD Massimo Mura Pharm Sc Elisabetta Pasquini MD Laura Santoro BSc Vincenzo Bellavia BSc Orazia Maria Granata BSc Cinzia Castana MD Kathleen S. McGreevy PhD Tommaso Silvano Aronica MD Giancarlo la Marca Pharm Sc
author_sort	Sara Poggiali BSc, MT
title	Reducing the False-Positive Rate for Isovalerylcarnitine in Expanded Newborn Screening
title_short	Reducing the False-Positive Rate for Isovalerylcarnitine in Expanded Newborn Screening
title_full	Reducing the False-Positive Rate for Isovalerylcarnitine in Expanded Newborn Screening
title_fullStr	Reducing the False-Positive Rate for Isovalerylcarnitine in Expanded Newborn Screening
title_full_unstemmed	Reducing the False-Positive Rate for Isovalerylcarnitine in Expanded Newborn Screening
title_sort	reducing the false-positive rate for isovalerylcarnitine in expanded newborn screening
publisher	SciELO
series	Journal of Inborn Errors of Metabolism and Screening
issn	2326-4594
publishDate	2016-07-01
description	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.
url	https://doi.org/10.1177/2326409816661355
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Reducing the False-Positive Rate for Isovalerylcarnitine in Expanded Newborn Screening

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