The use of chromatography mass spectrometry in differential diagn | 55871
Journal of Chromatography & Separation Techniques

Journal of Chromatography & Separation Techniques
Open Access

ISSN: 2157-7064

The use of chromatography mass spectrometry in differential diagnosis of hyperammonemia cases

3rd International Conference and Exhibition on Advances in Chromatography & HPLC Techniques

July 13-14, 2017 Berlin, Germany

Shimaa Abd El Sattar, Manar Obada, Yasser El ghobashy, Elsayd Abou-El nour, Osama Zaki and Hala El-Said

Menoufia University, Egypt
Ain Shams University, Egypt

Posters & Accepted Abstracts: J Chromatogr Sep Tech

Abstract :

Background: Hyperammonemia is a life-threatening problem in the child period that requires prompt intervention. Objective: The objective is to study amino acids, acylcarnitines and organic acids profiles in Egyptian pediatric patients with hyperammonemia using tandem mass spectrometry (MS/MS) and gas chromatography mass spectrometry (GC/MS). Patients & Methods: The study included 60 pediatric patients with hyperammonemia; 40 patients suspected to have inborn error of metabolism and 20 patients suspected to have hepatic disorders in addition, 50 apparently healthy subjects served as control group. Routine laboratory investigations were done for all participants. Quantitative measurements of amino acids and acylcarnitine profiles using MS/MS and of organic acids using GC/MS were done. Results: The study proved that, 37 cases out of 40 with suspected inborn errors of metabolism had metabolic disorders; 14 patients (35%) had glutaric acidemia type I (GAI), 9 patients (22.5%) had methylmalonic acidemia (MMA), 5 patients (12.5%) had propionic acidemia (PA), 4 patients (9.5%) had isovaleric academia (IVA), 1 patient (2.5%) had methyl crotonyl glycinuria (MCG), 2 patients (5%) had lactic acidemia and 2 patients (5%) had orotic academia; however, no definitive diagnosis was reached in 3 (7.5%) cases. Conclusion: This study highlighted the importance of MS/MS based blood spot analysis and GC/MS based urinary metabolite analysis combined with a multivariate statistical technique to distinguish metabolic profile variations of hyperammonemia cases in pediatric patients.

Biography :