I Ibarra-González1, C Fernández-Lainez2, L Belmont-Martínez2, S Guillén-López2, S Monroy-Santoyo2, M Vela-Amieva3. 1. Unidad de Genética de la Nutrición, Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México, México. 2. Laboratorio de Errores Innatos del Metabolismo y Tamiz, Instituto Nacional de Pediatría, Secretaría de Salud, México. 3. Laboratorio de Errores Innatos del Metabolismo y Tamiz, Instituto Nacional de Pediatría, Secretaría de Salud, México. Electronic address: dravelaamieva@yahoo.com.
Abstract
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.
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 acidoxidation 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.
Authors: Olga Y Echeverri; Johana M Guevara; Ángela J Espejo-Mojica; Andrea Ardila; Ninna Pulido; Magda Reyes; Alexander Rodriguez-Lopez; Carlos J Alméciga-Díaz; Luis A Barrera Journal: Orphanet J Rare Dis Date: 2018-08-16 Impact factor: 4.123