Gene mutations related to PKU or to BH4 deficiency


I don’t find LiveWello very intuitive.

I’m trying to find out whether I have mutations on GCH1, QDPR, PTS or PCBD1 genes to see my susceptibility to PKU or have BH4 deficiency.

Any idea how I do that?


When I look at my 23&Me results, using Promethease’s “Medical Conditions” for Phenylketonuria, I get (170) SNP results. The first 4 pages (listed by magnitude) are all grey, meaning no good or bad expectations. Maybe LiveWello isn’t the best program to use for this condition…

You will have to combine data sets to get a more complete analysis. Which genetic data set do you use? 23andMe? Which version? Just shoot me an email and I’ll try to help you through it.