I am new to this board and am wondering if anyone has experience with non-PKU HPA. My son was born 2 weeks ago and was screened for PKU during the first 24 hours. His phe level was 5.2mg/dL. We went for a follow-up screening when he was 1wk old, and his level was 6.6mg/dL. The doctor placed him on 8 1oz Phenex supplements per day (no restrictions on breastfeeding). Four days later, his level came down to 1.7mg/dL and the diet was adjusted to 6 1oz supplements per day. We have another blood test in a couple days to see how he has responded to the adjusted diet.
The doctor believes my son has non-PKU HPA. There seems to be a lot of information available (at least on the web) about mild/classic PKU, but not as much on non-PKU HPA. How is treatment different for non-PKU HPA? Will he be able to relax his diet in later years, or will he even need it? Also, are there any questions we should be asking our doctor?
Non-PKU HPA is the same as hyperphenylalaninemia or hyperphe for short. In simple terms hyperphe is a mild form of PKU. Classical PKU is the most severe case. It is hard to tell if your son will need a low protein diet or not, but in my experience many people that I have met who have hyperphe still need to follow the low protein diet to some extent.
The main difference between those who have classical PKU and those who have hyperphe is that people with hyperphe tend to tolerate more phenylalanine (the amino acid that our bodies do not break down) without having high phenylalanine blood levels. Only time will tell how much phenylalanine/protein your son will be able to have. For the most part treating PKU is a lot of guessing and checking. You do a blood test and if the phenylalanine level does not come back where it needs to be his doctor or dietitian will adjust his phenylalanine intake to bring his levels back to where they need to be.
I can promise you that with proper treatment your son will grow up to be an amazing man! I have classical PKU, and I just see PKU as a different way of living. As long as I follow the low protein diet and drink my formula nothing can stop me from doing what I want to do.