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Volume 2016 (2016), Article ID 9828672, 14 pages
Review Article

Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach

1Department of Pharmaceutical Sciences, Babasaheb Bhimrao Ambedkar University, Raebareli Road, Vidyavihar, Lucknow 226025, India
2Department of Pharmaceutical Technology, Jadavpur University, Kolkata 700032, India
3Dr. Reddy’s Laboratories Limited, Bachupally, Hyderabad, Telangana 502325, India

Received 1 December 2015; Revised 21 January 2016; Accepted 31 January 2016

Academic Editor: Gary Lopaschuk

Copyright © 2016 Swati Chaturvedi et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


One of the extreme challenges in biology is to ameliorate the understanding of the mechanisms which emphasize metabolic enzyme deficiency (MED) and how these pretend to have influence on human health. However, it has been manifested that MED could be either inherited as inborn error of metabolism (IEM) or acquired, which carries a high risk of interrupted biochemical reactions. Enzyme deficiency results in accumulation of toxic compounds that may disrupt normal organ functions and cause failure in producing crucial biological compounds and other intermediates. The MED related disorders cover widespread clinical presentations and can involve almost any organ system. To sum up the causal factors of almost all the MED-associated disorders, we decided to embark on a less traveled but nonetheless relevant direction, by focusing our attention on associated gene family products, regulation of their expression, genetic mutation, and mutation types. In addition, the review also outlines the clinical presentations as well as diagnostic and therapeutic approaches.