Abnormal folate metabolizing enzyme genotypes are the main cause of folate metabolism disorders

Folate metabolizing enzyme gene polymorphisms can lead to impaired folate metabolism. As mentioned above, 5,10-methylenetetrahydrofolate reductase is generally classified into three genotypes.

Abnormal folate metabolizing enzyme genotypes are the main cause of folate metabolism disorders

Individuals with the MTHFR667TT genotype have only one-third or less of the normal folate metabolizing enzyme activity.
This makes the conversion of folic acid in the body difficult.
Carriers of the MTHFR677TT gene are said to have a severe impairment of folate metabolism.
Carriers of the MTHFR677CT gene are said to have a moderate impairment of folate metabolism.
These genotypes, not only lead to low folate utilisation, but also predispose to certain diseases.
Genetic testing is now available to identify mutations in different folate metabolising enzymes to determine whether they have a disorder of folate metabolism, so that countermeasures can be planned to remedy their deficiencies.
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