Reference values of amino acids, acylcarnitines and succinylacetone by tandem mass spectrometry for use in newborn screening in southwest Colombia.

Nora Cespedes,Daisy E Castiñeiras,Paula Margarita Hurtado,Angela Valencia,Carlos Alberto Echeverry,Jose Angel Cocho,Myriam Arevalo-Herrera,Maria Isabel Arce-Plata,Cristobal Colon,Socrates Herrera

doi:10.25100/cm.v48i3.2180

Abstract

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 in Colombia.

Highlights

Inborn errors of metabolism (IEM) represent an important Introducción: Los Errores Innatos del metabolismo (EIM) representan un public health problem due to current diagnosis and treatment limitations, importante problema de salud pública debido a limitaciones en el tratamiento poor life quality of affected patients, and consequent untimely child death. y diagnóstico oportuno, la pobre calidad de vida de los pacientes afectados, In contrast to classical methods, tandem mass spectrometry (MS/MS) has así como la muerte infantil prematura
Acylcarnitines and succinylacetone in newborn dried blood spots using MS/MS, Métodos: Aquí, se describe la implementación de un método para determinar and its application in a cross-sectional study conducted in 891 healthy neonates aminoácidos, acilcarnitinas y succinilacetona en gotas de sangre seca de recién from Cali and Quibdo cities is described
This trial was conducted according to ICH E-6 Guidelines for Good Clinical Practices and the protocol was approved by Institutional Review Boards (IRB) of the Malaria Vaccine and Drug Development Center-MVDC (CECIV from Cali, act number 005), Clínica Versalles (Cali) and Hospital San Francisco de Asís (Quibdo)

Summary

Introduction

Inborn errors of metabolism (IEM) represent an important Introducción: Los Errores Innatos del metabolismo (EIM) representan un public health problem due to current diagnosis and treatment limitations, importante problema de salud pública debido a limitaciones en el tratamiento poor life quality of affected patients, and consequent untimely child death. y diagnóstico oportuno, la pobre calidad de vida de los pacientes afectados, In contrast to classical methods, tandem mass spectrometry (MS/MS) has así como la muerte infantil prematura. It is estimated that IEM could affect 6-8% of the world population, the data vary from country to country and in some like Colombia no data are available due to lack of epidemiological studies and the restrictions for accurate diagnosis. IEM are serious, degenerative, chronic diseases with painful and disabling clinical manifestations ranging from unnoticed clinical pictures or confused with other diseases to varying degrees of mental retardation and physical disability[3]. These diseases can result in death at an early age, creating a considerable family and social burden. Early diagnosis and adequate treatment allow patients to lead an almost normal life, reducing sequelae or at least substantially lessening organ damages

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