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Am J Perinatol 2021; 38(08): 828-833
DOI: 10.1055/s-0039-3402723
Original Article

Perinatal Reduced Blood Concentrations of Free Carnitine and Acylcarnitines in Infants with Cystic Fibrosis

Kleopatra H. Schulpis
1   Institute of Child Health, Aghia Sophia Children's Hospital, Athens, Greece
,
Elina Molou
2   Laboratory of Prenatal and Neonatal Screening, Neoscreen Ltd., Athens, Greece
,
Penelope Manta-Vogli
3   Department of Clinical Nutrition and Dietetics, Aghia Sofia Children's Hospital, Athens, Greece
,
Yannis Dotsikas
4   Laboratory of Pharmaceutical Analysis, Department of Pharmacy, National and Kapodistrian University of Athens, Athens, Greece
,
Georgia Thodi
2   Laboratory of Prenatal and Neonatal Screening, Neoscreen Ltd., Athens, Greece
,
Maria Chatzidaki
2   Laboratory of Prenatal and Neonatal Screening, Neoscreen Ltd., Athens, Greece
,
Yannis L. Loukas
4   Laboratory of Pharmaceutical Analysis, Department of Pharmacy, National and Kapodistrian University of Athens, Athens, Greece
› Author Affiliations Funding None.
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Abstract

Objective Cystic fibrosis (CF) is a multisystemic inherited disease. The aim of this study was to determine free carnitine (FC) and acylcarnitine concentrations in CF newborns with various mutations of the CFTR gene perinatally.

Study Design FC/acylcarnitines were determined in dried blood spots via liquid chromatography-tandem mass spectrometry (LC-MS/MS) on the third day of life of full-term normal (n = 50) and CF (n = 28) newborns. For infants with elevated immunoreactive trypsinogen values, FC/acylcarnitines were quantified again 48 hours later, followed by mutational analysis of CFTR gene via Sanger sequencing.

Results Initial FC and sums of acylcarnitine concentrations were statistically significantly lower in CF patients than in controls and even lower 48 hours later. The mutations F508del and 621 + 1G > T were predominantly identified among CF patients.

Conclusion Low FC and acylcarnitine concentrations were measured perinatally in CF patients, for all CFTR mutations detected. Carnitine supplementation of breastfeeding mothers could be beneficial.

Keywords

cystic fibrosis - CFTR gene - acylcarnitines - newborn screening - fatty acids


Publication History

Received: 23 August 2019

Accepted: 25 November 2019

Article published online:
31 December 2019

© 2019. Thieme. All rights reserved.

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333 Seventh Avenue, 18th Floor, New York, NY 10001, USA

 

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