The markers of the organic acidemias and their ratios in healthy neonates in Serbian population
Author:
Beletić Anđelo1ORCID, Tijanić Aleksandra1, Chrastina Petr2, Nikolić Tatjana3, Stefanović Aleksandar34, Stanković Sanja15
Affiliation:
1. Center for Medical Biochemistry , University Clinical Center of Serbia , Belgrade , Serbia 2. Department of Pediatrics and Inherited Metabolic Disorders , First Faculty of Medicine, Charles University and General University Hospital , Prague , Czech Republic 3. Clinic for Gynecology and Obstetrics , University Clinical Centre of Serbia , Belgrade , Serbia 4. School of Medicine, University of Belgrade , Belgrade , Serbia 5. Faculty of Medical Sciences, University of Kragujevac , Kragujevac , Serbia
Abstract
Abstract
Objectives
The newborn screening (NBS) program in the Republic of Serbia has several decades of tradition, but it has not included any organic acidemias (OA). Therefore, this study aimed to establish the cut-offs of the corresponding NBS markers in the population of healthy newborns.
Methods
In dried blood samples (DBS) collected from 1,771 healthy newborns, we analyzed levels of propionylcarnitine (C3), isovalerylcarnitine (C5), and glutarylcarnitine (C5DC) using tandem mass spectrometry. Further we calculated the following ratios: C3/acetylcarnitine (C3/C2), C3/palmitoylcarnitine (C3/C16), C5/ free carnitine (C0), C5/C2, C5/C3, C5DC/octanoylcarnitine (C8), and C5DC/C0.
Results
The cut-offs for methylmalonic acidemia (MMA) or propionic acidemia (PA) were C3>5.73 μmol/L, C3/C2>0.23, and C3/C16>2.36. Based on the study findings, the screening results indicative for isovaleric acidemia (IVA) would include C5>0.372 μmol/L, C5/C0>0.020, C5/C2>0.019, and C5/C3>0.31. Finally, C5DC>0.303 μmol/L, C5DC/C8>7.1, and C5DC/C0>0.019 would justify further testing for glutaric acidemia type I (GA1). The cut-offs were satisfactorily validated via the comparison with worldwide estimates and data for several Caucasian populations.
Conclusions
The levels of the OA biomarkers in the Serbian population of healthy newborns have a distribution pattern similar to the other world populations. Therefore, the proposed cut-offs represent a reliable starting point for the future development of the OA NBS.
Publisher
Walter de Gruyter GmbH
Subject
Pharmacology (medical),General Pharmacology, Toxicology and Pharmaceutics
Reference13 articles.
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