![](/images/graphics-bg.png)
Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach
Joint Authors
Saha, Sudipta
Chaturvedi, Swati
Singh, Ashok K.
Keshari, Amit K.
Maity, Siddhartha
Sarkar, Srimanta
Source
Issue
Vol. 2016, Issue 2016 (31 Dec. 2016), pp.1-14, 14 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2016-03-09
Country of Publication
Egypt
No. of Pages
14
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Chaturvedi, Swati& Singh, Ashok K.& Keshari, Amit K.& Maity, Siddhartha& Sarkar, Srimanta& Saha, Sudipta. 2016. Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach. Scientifica،Vol. 2016, no. 2016, pp.1-14.
https://search.emarefa.net/detail/BIM-1118018
Modern Language Association (MLA)
Chaturvedi, Swati…[et al.]. Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach. Scientifica No. 2016 (2016), pp.1-14.
https://search.emarefa.net/detail/BIM-1118018
American Medical Association (AMA)
Chaturvedi, Swati& Singh, Ashok K.& Keshari, Amit K.& Maity, Siddhartha& Sarkar, Srimanta& Saha, Sudipta. Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach. Scientifica. 2016. Vol. 2016, no. 2016, pp.1-14.
https://search.emarefa.net/detail/BIM-1118018
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1118018