title: Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach.
abstract: 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.
authors.affiliation: Department of Pharmaceutical Sciences, Babasaheb Bhimrao Ambedkar University, Raebareli Road, Vidyavihar, Lucknow 226025, India.
authors.forename: Swati
authors.initials: S
authors.lastname: Chaturvedi
authors.affiliation: Department of Pharmaceutical Sciences, Babasaheb Bhimrao Ambedkar University, Raebareli Road, Vidyavihar, Lucknow 226025, India.
authors.forename: Ashok K
authors.initials: AK
authors.lastname: Singh
authors.affiliation: Department of Pharmaceutical Sciences, Babasaheb Bhimrao Ambedkar University, Raebareli Road, Vidyavihar, Lucknow 226025, India.
authors.forename: Amit K
authors.identifier: 0000-0002-9806-7427
authors.initials: AK
authors.lastname: Keshari
authors.affiliation: Department of Pharmaceutical Technology, Jadavpur University, Kolkata 700032, India.
authors.forename: Siddhartha
authors.initials: S
authors.lastname: Maity
authors.affiliation: Dr. Reddy's Laboratories Limited, Bachupally, Hyderabad, Telangana 502325, India.
authors.forename: Srimanta
authors.initials: S
authors.lastname: Sarkar
authors.affiliation: Department of Pharmaceutical Sciences, Babasaheb Bhimrao Ambedkar University, Raebareli Road, Vidyavihar, Lucknow 226025, India.
authors.forename: Sudipta
authors.identifier: 0000-0002-0087-8652
authors.initials: S
authors.lastname: Saha