Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach
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 (I...
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| Format: | Article |
| Language: | English |
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Wiley
2016-01-01
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| Series: | Scientifica |
| Online Access: | http://dx.doi.org/10.1155/2016/9828672 |
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| author | Swati Chaturvedi Ashok K. Singh Amit K. Keshari Siddhartha Maity Srimanta Sarkar Sudipta Saha |
| author_facet | Swati Chaturvedi Ashok K. Singh Amit K. Keshari Siddhartha Maity Srimanta Sarkar Sudipta Saha |
| author_sort | Swati Chaturvedi |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-c453ba8a8c7e4d858df7db9f5ff017a5 |
| institution | Kabale University |
| issn | 2090-908X |
| language | English |
| publishDate | 2016-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Scientifica |
| spelling | doaj-art-c453ba8a8c7e4d858df7db9f5ff017a52025-02-03T07:25:36ZengWileyScientifica2090-908X2016-01-01201610.1155/2016/98286729828672Human Metabolic Enzymes Deficiency: A Genetic Mutation Based ApproachSwati Chaturvedi0Ashok K. Singh1Amit K. Keshari2Siddhartha Maity3Srimanta Sarkar4Sudipta Saha5Department of Pharmaceutical Sciences, Babasaheb Bhimrao Ambedkar University, Raebareli Road, Vidyavihar, Lucknow 226025, IndiaDepartment of Pharmaceutical Sciences, Babasaheb Bhimrao Ambedkar University, Raebareli Road, Vidyavihar, Lucknow 226025, IndiaDepartment of Pharmaceutical Sciences, Babasaheb Bhimrao Ambedkar University, Raebareli Road, Vidyavihar, Lucknow 226025, IndiaDepartment of Pharmaceutical Technology, Jadavpur University, Kolkata 700032, IndiaDr. Reddy’s Laboratories Limited, Bachupally, Hyderabad, Telangana 502325, IndiaDepartment of Pharmaceutical Sciences, Babasaheb Bhimrao Ambedkar University, Raebareli Road, Vidyavihar, Lucknow 226025, IndiaOne 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.http://dx.doi.org/10.1155/2016/9828672 |
| spellingShingle | Swati Chaturvedi Ashok K. Singh Amit K. Keshari Siddhartha Maity Srimanta Sarkar Sudipta Saha Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach Scientifica |
| title | Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach |
| title_full | Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach |
| title_fullStr | Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach |
| title_full_unstemmed | Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach |
| title_short | Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach |
| title_sort | human metabolic enzymes deficiency a genetic mutation based approach |
| url | http://dx.doi.org/10.1155/2016/9828672 |
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