Asian Journal of Cell Biology1814-00682152-3517Academic Journals Inc.10.3923/ajcb.2015.35.42GalehdariHamid RahimJafar Derakhshan-FardMaryam RahimFakher 22015102Over the last few years, the use of Exome Sequencing (ES) has significantly improved our understanding of many complex diseases. Inborn Errors of Metabolism (IEM) are a genetically heterogeneous group of diseases caused by a defect in a metabolic pathway, leading to the production and/or accumulation of toxic metabolites in the body. In this review, we aimed to analyze all the available publications and highlight the advantage issues in the conduct and interpretation of these studies and also to establish, if, the existing data supports any polymorphism to be conclusively associated with IEM. We systematically searched PubMed using MeSH terms include, "Metabolism, Inborn Errors" and "Exome" and all other possible combination from 1/1/1980-29/6/2014. The search returned 54 unique articles of which 19 articles met the established inclusion criteria and were included in the analysis. Overall, 19 studies were selected, include Leigh syndrome (LS, n = 4), Brown-Vialetto-Van-Laere syndrome (BVVL, n = 4), 3-Methylglutaconic aciduria (3-MGCA, n = 3), Niemann-Pick disease type C (NPC, n = 1), Inborn errors of vitamin B12 (n = 2), Inborn error of folate metabolism (n = 2), Pentosuria (n = 1) and Combined Malonic and Methylmalonic Aciduria (CMAMMA, n = 2). Considering the complex etiology, it is enormously doubtful that any single SNP contributes significantly to the development of IEM. Consequently, conducting future studies that focus on other low penetrance polymorphisms using more comprehensive techniques such as ES for identification of potential genetic variations.]]>Alavi, A., S. Nafissi, H. Shamshiri, M.M. Nejad and E. 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