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Pathways, enzymes, and coenzymes involved in the homocystinurias. Methionine transfers a methyl group during its conversion to homocysteine. Defects
in methyl transfer or in the subsequent metabolism of homocysteine by the pyridoxal phosphate (vitamin B6)-dependent cystathionine β-synthase increase
plasma methionine levels. Homocysteine is transformed into methionine via remethylation. This occurs through methionine synthase, a reaction requiring
methylcobalamin and folic acid. Deficiencies in these enzymes or lack of cofactors is associated with decreased or normal methionine levels. In an
alternative pathway, homocysteine can be remethylated by betaine:homocysteine methyl transferase.
Source: Chapter 364. Inherited Disorders of Amino Acid Metabolism in Adults, Harrison's Principles of Internal Medicine, 18e
Citation: Longo DL, Fauci AS, Kasper DL, Hauser SL, Jameson J, Loscalzo J. Harrison's Principles of Internal Medicine, 18e; 2012 Available at: Accessed: May 12, 2017
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