RESUMO
INTRODUCTION: Inborn errors of intermediary metabolism (IEiM) are a group of heterogeneous genetic diseases that are diagnostically challenging and cause significant morbidity and mortality. The aim of this study is to perform a descriptive analysis of the number, type, and clinical features, in a series of cases with IEiM identified through selective diagnosis in a highly specialized pediatric hospital. MATERIALS AND METHODS: A retrospective study was performed from January of 2000 to December of 2012 by analyzing the files of 204 patients with an IEiM, by selective screening, before and after the implementation of tandem mass spectrometry (MS/MS). RESULTS: A total of 25 different types of IEiM were found in the 204 files; 102 organic acidurias, 100 aminoacidopathies, and 2 fatty acid oxidation disorders. The introduction of MS/MS increased the number of cases detected by 50%. Patients were referred from 13 different specialists, with pediatricians being the most active. The average interval between onset of symptoms and diagnosis was 18 months. CONCLUSION: Among the sick Mexican children studied, a wide variety of IEiM was found, propionate defects and maple syrup urine disease being noteworthy. The diagnosis of metabolic disease was delayed in the population studied. These results present evidence to perhaps incorporate IEiM into an expanded newborn screening, or else to perform selective diagnosis in all hospitalized children with suggestive clinical data.
Assuntos
Erros Inatos do Metabolismo/diagnóstico , Erros Inatos do Metabolismo/epidemiologia , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , México , Estudos RetrospectivosRESUMO
La determinación de aminoácidos en sangre, es una prueba fundamental en la detección de errores hereditarios de la degradación de algunos aminoácidos y algunas acidurias orgánicas. El objetivo del presente trabajo, ha sido establecer valores de referencia para aminoácidos en sangre de caninos adultos mediante espectrometría de masas en tándem. Fueron obtenidas muestras de sangre de 60 caninos normales mayores de 18 meses (30 machos y 30 hembras). Las muestras fueron tomadas en papel de filtro y analizadas mediante espectrometría de masas en tándem. No fue encontrada diferencia significativa entre machos y hembras. Son reportados valores de referencia en caninos usando esta técnica. La espectrometría de masas en tándem constituye una herramienta importante para el diagnóstico de metabolopatías.
The measurement of blood amino acids is a basic test for the detection of inherited inborn errors related to some amino acids metabolism and organic acidurias. The objective of the present study was to establish reference values for amino acids in blood of canines using tandem mass spectrometry. Blood samples from 60 normal canines over 18 moths of age (30 male and 30 female) were obtained, and dried blood spots were prepared for amino acids analysis by tandem mass spectrometry. No significant differences between sexes were found. Reference values for amino acids in canines using this technique are provided. Tandem mass spectrometry is an important tool for the diagnosis of metabolic disorders.