Betaine
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Betaine is a methyl group donor used for the treatment of homocystinuria to decrease elevated homocysteine blood levels.
Betaine is a methyl group donor used for the treatment of homocystinuria to decrease elevated homocysteine blood levels.
Homocystinuria is a hereditary disorder characterized by high levels of the amino acid homocysteine. This condition can be caused by deficiencies or defects in cystathionine beta-synthase (CBS), 5,10-methylenetetrahydrofolate reductase (MTHFR), and cobalamin cofactor metabolism (cbl). CBS converts homocysteine to cystathionine, and a deficiency in this enzyme can lead to an accumulation of homocysteine. MTHFR is responsible for producing 5-methyltetrahydrofolate, a methyl donor that participates in the conversion of homocysteine back to methionine; therefore, an MTHFR deficiency can also lead to homocystinuria. Additionally, a defect in cobalamin (vitamin B12) cofactor metabolism can lead to homocystinuria, since a metabolite of cobalamin (methylcobalamin) promotes the conversion of homocysteine to methionine. Betaine transfers a methyl group via the enzyme betaine homocysteine methyl transferase (BHMT), converting homocysteine back into methionine and dimethylglycine (DMG). In patients with homocystinuria, betaine reduces homocysteine levels and improves health outcomes.
Betaine is indicated for the treatment of homocystinuria in pediatric and adult patients to decrease elevated homocysteine blood levels. Included within the category of homocystinuria are deficiencies or defects in cystathionine beta-synthase (CBS), 5,10-methylenetetrahydrofolate reductase (MTHFR), and cobalamin cofactor metabolism (cbl).
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