1. Perinatal Reduced Blood Concentrations of Free Carnitine and Acylcarnitines in Infants with Cystic Fibrosis.
- Author
-
Schulpis KH, Molou E, Manta-Vogli P, Dotsikas Y, Thodi G, Chatzidaki M, and Loukas YL
- Subjects
- Biomarkers, Carnitine administration & dosage, Cystic Fibrosis genetics, Cystic Fibrosis Transmembrane Conductance Regulator genetics, DNA Mutational Analysis, Food, Fortified, Humans, Infant, Newborn, Milk, Human, Mutation, Neonatal Screening, Carnitine analogs & derivatives, Carnitine blood, Cystic Fibrosis blood
- 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., Competing Interests: None declared., (Thieme. All rights reserved.)
- Published
- 2021
- Full Text
- View/download PDF