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Article Type

Original Study

Abstract

Objective The aim of this study was to study amino acid and acylcarnitine profiles in Egyptian pediatric patients with hyperammonemia using high-performance liquid chromatography (HPLC). Background Hyperammonemia is a life-threatening problem during childhood that requires prompt intervention. Emerging metabolomics such as amino acid and acylcarnitine assay provide a powerful platform for discovering new biomarkers to improve early diagnosis. Patients and methods A total of 110 pediatric patients were enrolled in this study: 40 patients with hyperammonemia suspected as having an inborn error of metabolism, 20 hyperammonemia patients suspected as having hepatic disorders, and 50 apparently healthy children who served as the control group. Routine laboratory investigations were carried out for all participants (blood ammonia, liver function tests, kidney function tests, and arterial blood gas analysis). Amino acid and acylcarnitine profiles were measured quantitatively for all participants using HPLC. Results Fourteen metabolites were supposed to be ‘potential metabolite markers’ for differentiation between patients with hyperammonemia due to inborn error of metabolism and those with hyperammonemia due to hepatic causes. Seven of these metabolites were amino acids (Gly : Ala, Leu-Ile, Leu : Phe, Met : Phe, methionine, tyrosine, and valine), and seven were acylcarnitines (C3, C3 : C2, C5-DC, C10 : C1, C16-OH, C18, and C14-carnitines). Conclusion Acylcarnitine and amino acid profiles detected using HPLC could be potential noninvasive diagnostic biomarkers for differentiation of hyperammonemia cases.

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