Journal of Chromatography & Separation Techniques
Open Access

Chromatographic detection of inborn error of metabolism in Egyptian pediatrics, two years of experiences

4^th World Congress on Chromatography

August 07-09, 2017 | Rome, Italy

Shimaa Abdelsatar, Manar Obada and Hala Elsaid

National Liver Institute, Egypt

Posters & Accepted Abstracts: J Chromatogr Sep Tech

Abstract :

Background: Inborn errors of metabolism (IEM) represent a special challenge in pediatric practice. Newborn screening approaches by tandem mass spectrometry (MS/MS) coupled to gas chromatography (GC) early in infancy help in rapid and well-timed therapeutic interference to prevent overwhelming neurological outcomes. Aim: Aim of this study is to estimate the effectiveness of the metabolic alterations as a rapid non-invasive metabolomics screening technique for diagnosis of different type of IEMs to establish diagnostic clue to IEM in high risk Egyptian pediatric for proper treatment and better outcome. Methods: During 2015-2016, samples of 480 patients were analyzed. Quantitative measurements of amino acids and acylcarnitine profiles using MS/MS and of organic acids using GC/MS were done. Results: 39 (39/480, 8.1%) of the patients were diagnosed to have IEM. The following disorders were identified; organic acidopathies: 25 (64.1%), amino acidopathies: 9 (23.1%), fatty acid disorders (FAO): 3 (7.7%) and lactic academia (LA): 2 (5.1%). Conclusion: Newborn screening program should be established in Egypt as the overall incidence of IEM was found to be high due to raised ratio of consanguinity; this approach could prevent, or at least, reduce serious neurological and developmental sequelae, improve survival and reduce mortality and morbidity of patients.

Biography :

Email: manarobada@yahoo.com