"Phenylketonurics: Contains Phenylalanine" I have phenylketonuria. AMA.
A few nights ago someone mentioned Phenylketonuria (PKU) in a thread on AskReddit and I responded. Through the next few days I answered a lot of interesting questions. It was suggested that I do an AMA in case there are more.
PKU is a hereditary metabolic disorder in which the liver doesn't produce enough of the enzymes that break down the essential amino acid phenylalanine ("phe" for short.) Phenylalanine would normally be processed into tyrosine, but for individuals with PKU, the enzyme activity is completely nonexistent or diminished, and the increased levels of phe become toxic to the central nervous system. Treatment involves a very restricted diet, and a prescribed medical food that contains all the amino acids except phenylalanine. It is now accepted that treatment must be maintained for life; although in the past, patients were told to stop treatment during adolescence.
Phenylalanine is the main component of the artificial sweetener aspartame, hence the phenylketonuric warnings on gum and diet sodas. It is also present in almost every food to some degree.
Here's the TLDR of what we can/can't eat: No meat, no fish, no eggs, no milk, no tofu, and no nuts. Fruits, most vegetables, and some carbs are ok. Lots of special order foods are available as well. Protein comes from prescribed medical food (formula, "milk", protein shake) and has all the amino acids except phenylalanine.
I was born with phenylketonuria; diagnosed via Newborn Screening shortly after birth. I did not even taste meat until I was 28 years old and trying a new drug that helps keep phe levels in the blood low (in some individuals with PKU). AMA.
Proof has been submitted to the mods.
Edit: I'm heading to bed soon but wanted to leave a few points of data.
-Along with the dietary restrictions, one of our biggest challenges is dealing with the costs of the medical food and specialty foods. Each state in the US has different mandates regarding the ways health insurance companies must cover the medical foods. Insurance companies often claim we can buy it over the counter, therefore they will not cover it. I and others have spent countless hours on the phone explaining the situations over and over, submitting letters of medical necessity and having our specialty clinics call as well. This is the only part of having PKU that really gets to me.
-The only drug currently on the market is prohibitively expensive, even with insurance. One day of the pills can cost as much as one month of the medical food in some cases. This drug doesn't work for everyone. There are trials in process for one that will, though.
-If you or someone you know has PKU and needs support, please visit one of the websites below and/or look up support groups online. There are a lot on facebook (just search for pku or phenylketonuria), and here we can be found at /r/phenylketonuria
http://www.npkua.org/ United States