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Overview of homocysteine and folate metabolism. With special references to cardiovascular disease and neural tube defects
This overview addresses homocysteine and folate metabolism. Its functions and complexity are described, leading to explanations why disturbed homocysteine and folate metabolism is implicated in many different diseases, including congenital birth defects like congenital heart disease, cleft lip and p...
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Formato: | Texto |
Lenguaje: | English |
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Springer Netherlands
2010
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3026708/ https://www.ncbi.nlm.nih.gov/pubmed/20814827 http://dx.doi.org/10.1007/s10545-010-9177-4 |
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author | Blom, Henk J. Smulders, Yvo |
author_facet | Blom, Henk J. Smulders, Yvo |
author_sort | Blom, Henk J. |
collection | PubMed |
description | This overview addresses homocysteine and folate metabolism. Its functions and complexity are described, leading to explanations why disturbed homocysteine and folate metabolism is implicated in many different diseases, including congenital birth defects like congenital heart disease, cleft lip and palate, late pregnancy complications, different kinds of neurodegenerative and psychiatric diseases, osteoporosis and cancer. In addition, the inborn errors leading to hyperhomocysteinemia and homocystinuria are described. These extreme human hyperhomocysteinemia models provide knowledge about which part of the homocysteine and folate pathways are linked to which disease. For example, the very high risk for arterial and venous occlusive disease in patients with severe hyperhomocysteinemia irrespective of the location of the defect in remethylation or transsulphuration indicates that homocysteine itself or one of its “direct” derivatives is considered toxic for the cardiovascular system. Finally, common diseases associated with elevated homocysteine are discussed with the focus on cardiovascular disease and neural tube defects. |
format | Text |
id | pubmed-3026708 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2010 |
publisher | Springer Netherlands |
record_format | MEDLINE/PubMed |
spelling | pubmed-30267082011-02-22 Overview of homocysteine and folate metabolism. With special references to cardiovascular disease and neural tube defects Blom, Henk J. Smulders, Yvo J Inherit Metab Dis Homocysteine and B-Vitamin Metabolism This overview addresses homocysteine and folate metabolism. Its functions and complexity are described, leading to explanations why disturbed homocysteine and folate metabolism is implicated in many different diseases, including congenital birth defects like congenital heart disease, cleft lip and palate, late pregnancy complications, different kinds of neurodegenerative and psychiatric diseases, osteoporosis and cancer. In addition, the inborn errors leading to hyperhomocysteinemia and homocystinuria are described. These extreme human hyperhomocysteinemia models provide knowledge about which part of the homocysteine and folate pathways are linked to which disease. For example, the very high risk for arterial and venous occlusive disease in patients with severe hyperhomocysteinemia irrespective of the location of the defect in remethylation or transsulphuration indicates that homocysteine itself or one of its “direct” derivatives is considered toxic for the cardiovascular system. Finally, common diseases associated with elevated homocysteine are discussed with the focus on cardiovascular disease and neural tube defects. Springer Netherlands 2010-09-04 2011 /pmc/articles/PMC3026708/ /pubmed/20814827 http://dx.doi.org/10.1007/s10545-010-9177-4 Text en © The Author(s) 2010 https://creativecommons.org/licenses/by-nc/4.0/ This article is distributed under the terms of the Creative Commons Attribution Noncommercial License which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited. |
spellingShingle | Homocysteine and B-Vitamin Metabolism Blom, Henk J. Smulders, Yvo Overview of homocysteine and folate metabolism. With special references to cardiovascular disease and neural tube defects |
title | Overview of homocysteine and folate metabolism. With special references to cardiovascular disease and neural tube defects |
title_full | Overview of homocysteine and folate metabolism. With special references to cardiovascular disease and neural tube defects |
title_fullStr | Overview of homocysteine and folate metabolism. With special references to cardiovascular disease and neural tube defects |
title_full_unstemmed | Overview of homocysteine and folate metabolism. With special references to cardiovascular disease and neural tube defects |
title_short | Overview of homocysteine and folate metabolism. With special references to cardiovascular disease and neural tube defects |
title_sort | overview of homocysteine and folate metabolism. with special references to cardiovascular disease and neural tube defects |
topic | Homocysteine and B-Vitamin Metabolism |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3026708/ https://www.ncbi.nlm.nih.gov/pubmed/20814827 http://dx.doi.org/10.1007/s10545-010-9177-4 |
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