Question about Ty
I was VERY relieved to hear that Ty doesn't seem to have full blown PKU. Very. I have some questions though on "benign PKU" as there doesn't seem to be a lot of information on it on the Internet. Does this mean Ty has some of the PAH enzyme but just not quite enough? How does benign PKU fit in with the genetic chart here? From what I read if you get the gene from both parents, you have PKU. If you only get it from one parent, you don't have it but are just a "carrier". Will he be able to eat as much food with phenylalanine as he wants or is there still going to be some dietary restrictions? Tell us more about it.
Comments
A short version is that Ty does not have "benign PKU" nor does he have PKU itself. There is, as far as I know, no disease process called benign PKU (which likely explains why you cannot find much information on it on the web).
What Ty does have exactly is still uncertain. He will go through further blood testing in one month to help to definitively determine what he has. All we can say for now is that he has hyperphenylalaninemia (a search for that on the web will be more helpful but still somewhat confusing) that does not appear to be due to PKU. Two options for what he has are transient hyperphenylalaninemia and benign hyperphenylalaninemia. If I understand things correctly, the most likely final diagnosis will be benign hyperphenylalaninemia.
For other questions regarding genetics, further workup, diet, treatment, etc. I'm still on paternity leave today and tomorrow so feel free to give a call