Dr. Hartman,
Yes. They should have adequate BH4 recycling in this situation and the need for BH4 doesn’t seem warranted.
The VMA and HVA situation isn’t as straightforward as those can be controlled by COMT activity too.
Therefore, if the A1298C is +- or ++ then BH4 support low dose could be used, but if you also have a neopterin/biopterin profile that is normal I am not sure I would bother. If the SNP profile is positive ++ or +- and the HVA and VMA are low (but you don’t have a neopterin/biopterin profile than I feel BH4 support is worthwhile. If you have a neopterin/biopterin profile too and it is normal with this scenario than it is a bit of a toss-up. I might use a low dose, i.e. 2.5mg once to twice daily to see what happens.
Dr. Woeller