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Article Type

Original Study

Abstract

Objectives To compare different levels of amino acid and acyl carnitine profiles to give an insight about metabolic pathways in cholestasis and biliary atresia (BA) in pediatric patients compared with controls. Background Early detection is the most effective way to improve the clinical outcome of BA. Emerging metabolomics such as amino acid and acyl carnitine provide a powerful platform for discovering new biomarkers and biochemical pathways to improve early diagnosis. Participants and methods This study includes 35 BA patients, 35 patients with neonatal cholestasis (NC) rather than BA, and 35 healthy controls. Liver function tests, abdominal ultrasound, and liver biopsy were performed on all participants. The amino acid and acyl carnitine profile using high-performance liquid chromatography tandem mass spectrometry (LC-MS/MS) was performed. Results Data revealed a statistically significant increase in methionine, glutamate, and citrulline (P < 0.001, P < 0.001 and P = 0.02, and P < 0.001, respectively) and a decrease in the branched-chain amino acid and fisher ratio (P = 0.02 and 0.001 and P = 0.001, respectively) in both the studied patient groups compared with the control group; there was also an increase in ornithine (P = 0.04) and a decrease in glycine (P = 0.04) amino acid in the BA group compared with the control group and an increase in arginine (P = 0.004) and aromatic amino acids (P = 0.001) and a decrease in the simplified fisher ratio (P < 0.001) in the non-BA group compared with the control group. Results also indicated a statistically significant increase in both patient groups compared with the control group regarding free carnitine (P < 0.001) and almost all studied acyl carnitines, whereas there was a significant decrease in the fisher ratio (P = 0.005) and the simplified fisher ratio (P = 0.004) and a significant increase in butyryl carnitine (C4) (P = 0.004) and octadecanoyl carnitine (C18) (P = 0.006) in the non-BA group compared with the BA group. Conclusion There is a common metabolic pathway for both BA and other causes of NC; however, there is a metabolic profile shift of amino acid and acyl carnitine in BA from other causes of NC detected by LC-MS/MS. This metabolic shift can be potentially developed into a useful diagnostic tool and can contribute towards understanding the disease mechanism.

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