Neonatal carnitine concentrations in relation to gestational age and weight

JIMD Reports

Rose Maase¹  Rendelien K. Verschoof‐Puite²  Mirjam Langeveld³  Loek L. Crefcoeur⁴  Gepke Visser⁴  Frits A. Wijburg⁵  Frédéric M. Vaz⁶  Ronald J.A. Wanders⁶  Sacha Ferdinandusse⁶  Peter C. J. I. Schielen⁷  Monique G. M. deSain‐van der Velden⁸ 

[1] Department Biologicals, Screening and Innovation Dutch National Institute for Public Health and the Environment Bilthoven The Netherlands;Department for Vaccine Supply and Prevention Programmes Dutch National Institute for Public Health and the Environment Bilthoven The Netherlands;Department of Endocrinology and Metabolism, Amsterdam UMC University of Amsterdam Amsterdam The Netherlands;Department of Metabolic Diseases, Wilhelmina Children's Hospital University Medical Center Utrecht Utrecht The Netherlands;Department of Pediatrics, Emma's Children's Hospital, Amsterdam UMC University of Amsterdam Amsterdam The Netherlands;Laboratory Genetic Metabolic Diseases, Amsterdam UMC University of Amsterdam, Amsterdam Cardiovascular Sciences, Amsterdam Gastroenterology and Metabolism Amsterdam The Netherlands;Reference Laboratory for Neonatal Screening, Centre for Health Protection Dutch National Institute for Public Health and the Environment Bilthoven The Netherlands;Section Metabolic Diagnostics, Department of Genetics University Medical Centre Utrecht, Utrecht University Utrecht The Netherlands;

关键词: carnitine;    LGA;    newborn screening;    postterm;    preterm;    SGA;   

DOI  :  10.1002/jmd2.12162

来源: DOAJ

【 摘 要 】

Abstract Background Free carnitine has been measured in the Dutch newborn screening (NBS) program since 2007 with a referral threshold of ≤5 μmol/L, regardless of gestational age or birthweight. However, several studies suggest that carnitine concentrations may depend on gestational age and birthweight. We evaluated differences in postnatal day‐to‐day carnitine concentrations in newborns based on gestational age (GA) and/or weight for GA (WfGA). Methods A retrospective study was performed using data from the Dutch NBS. Dried blood spot (DBS) carnitine concentrations, collected between the 3rd and 10th day of life, of nearly 2 million newborns were included. Individuals were grouped based on GA and WfGA. Median carnitine concentrations were calculated for each group. Mann‐Whitney U tests, and chi‐square tests were applied to test for significant differences between groups. Results Preterm, postterm, and small for GA (SGA) newborns have higher carnitine concentrations at the third day of life compared to term newborns. The median carnitine concentration of preterm newborns declines from day 3 onwards, and approximates that of term newborns at the sixth day of life, while median concentrations of postterm and SGA newborns remain elevated at least throughout the first 10 days of life. Carnitine concentrations ≤5 μmol/L were found less frequently in SGA newborns and newborns born between 32 and 37 weeks of gestation, compared to term newborns. Conclusions Median carnitine concentrations in NBS DBS vary with day of sampling, GA, and WfGA. It is important to take these variables into account when interpreting NBS results..

【 授权许可】

Unknown