Reference values of amino acids, acylcarnitines and succinylacetone by tandem mass spectrometry for use in newborn screening in southwest Colombia|
Céspedes, Nora; Valencia, Angela; Echeverry, Carlos Alberto; Arce-Plata, Maria Isabel; Colón, Cristóbal; Castiñeiras, Daisy E; Hurtado, Paula Margarita; Cocho, Jose Angel; Herrera, Sócrates & Arévalo-Herrera, Myriam
Introduction: Inborn errors of metabolism (IEM) represent an important
public health problem due to current diagnosis and treatment limitations,
poor life quality of affected patients, and consequent untimely child death.
In contrast to classical methods, tandem mass spectrometry (MS/MS) has
allowed simultaneous evaluation of multiple metabolites associated with IEM
offering higher sensitivity, low false positive rates and high throughput.
Aims: Determine concentration levels for amino acids and acylcarnitines in
blood of newborns from Colombia, to establish reference values for further
use in diagnosis of IEM.
Methods: Implementation of a method to determine amino acids,
acylcarnitines and succinylacetone in newborn dried blood spots using MS/MS,
and its application in a cross-sectional study conducted in 891 healthy neonates
from Cali and Quibdo cities is described.
Results: fifty-seven analytes that allow the diagnosis of more than 40
different pathologies were tested. The method showed to be linear, precise and
accurate. Healthy neonates 1-18 days of age were included, 523 from Cali and
368 from Quibdo; 52% male and 48% female. Age-related differences on the
concentration levels of amino acids and acylcarnitines were observed whereas
no significant differences by gender were found.
Conclusion: The study has contributed to reveal the usual concentration
levels of amino acids, acylcarnitines and succinylacetone that could be used
as reference for the establishment of a newborn metabolic screening program
Neonatal screenings; inborn errors; amino acids; acylcarnitines; succinylacetone; mass spectrometry; tandem