Folates play an essential role in one-carbon methyl transfer reactions, mediating several biological processes (e.g. DNA synthesis, epigentics by methylation, embryonic central nervous system development, cata-/anabolism of amino acids, and anabolism of thymidines, purines, and neurotransmitters. The biologically active folic acid derivative is 5,6,7,8-tetrahydrofolate (THF). Dietary folate is absorbed in the intestine, and stored in the liver for few months. [rephrased from chapter 10 of Blau et al, ISBN 3642403360 (978-3642403361)]. For more detail on MTHFR deficiency, please visit [https://www.wikipathways.org/index.php/Pathway:WP4288].

Authors

Jesse Vercoulen , Egon Willighagen , Andra Waagmeester , Denise Slenter , Kristina Hanspers , Irene Hemel , Josien Landman , Friederike Ehrhart , Eric Weitz , and Finterly Hu

Cited In

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Organism

Homo sapiens

Communities

Diseases Inherited Metabolic Disorders (IMD) Pathways Rare Diseases

Annotations

Pathway Ontology: folate metabolic pathway disease pathway methylenetetrahydrofolate reductase deficiency pathway

Disease Ontology: vitamin B12 deficiency vitamin metabolic disorder cerebral folate receptor alpha deficiency glutamate formiminotransferase deficiency megaloblastic anemia

Cell Type Ontology: central nervous system neuron

Participants

References

1. Blau N, Duran M, Gibson KM, Dionisi-Vici C. Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases [Internet]. Springer; 2014. 867 p. Available from: https://books.google.com/books/about/Physician_s_Guide_to_the_Diagnosis_Treat.html?hl=&id=wJRBnwEACAAJ OpenLibrary Worldcat
2. Toward a better understanding of folate metabolism in health and disease. Zheng Y, Cantley LC. J Exp Med. 2019 Feb 4;216(2):253–66. PubMed Europe PMC Scholia