betaine + creatine + L-5-methyltetrahydrofolate + vitamin B12

This combination dietary supplement regimen, investigated by the University of California, San Diego, consists of betaine, creatine, Metafolin (L-5-methyltetrahydrofolate), and vitamin B12. It was developed as a pro-methylation strategy for the treatment of Angelman syndrome, a genetic disorder characterized by the loss of UBE3A gene expression from the maternal chromosome. The regimen aimed to promote DNA methylation at the UBE3A locus to silence the antisense transcript and reactivate the expression of the paternal UBE3A gene. Clinical evaluation in a single-arm trial (NCT00348933) involving children under 6 years of age demonstrated that while the combination was safe and well-tolerated, it failed to produce statistically significant improvements in developmental functioning or clinical symptoms.

Brand names

Metafolin

Other names

L-5-methyltetrahydrofolateL5-methyltetrahydrofolateL 5-methyltetrahydrofolate5-MTHFpro-methylation regimen