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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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Detalles Bibliográficos
Autores principales: Blom, Henk J., Smulders, Yvo
Formato: Texto
Lenguaje:English
Publicado: Springer Netherlands 2010
Materias:
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.
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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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