Does anyone else have PKU?

[marcwagz]

So this isn't really about nutrition per say but I'm curious if anyone else on the board has PKU and how they work nutrition into their work outs if they do.

Personally I have it and I am not supposed to eat any meat or hard proteins like beans/cheese/milk etc at all and I have to take a supplement to feed the protein back to me.

For the biologically inclined:

Phenylketonuria, or "PKU" as it is commonly referred to by both its patients and medical professionals, is a genetic disorder passed by recessive genes that prevents those afflicted from breaking down one essential amino acid known as phenylalanine into another amino acid known as tyrosine. Generally, if both and only if both of the parents carry the altered "PKU gene" then the child they have will contract the disorder. Every child born in North America is now screened at birth for the disorder, as left untreated it can have devastating effects on a person's life. If too much phenylalanine builds up in the brain and nervous system of a patient it becomes toxic, if this continues for a long time afflicted persons have a high risk, and will most likely eventually become mentally retarded.

The cause of PKU can be traced to a tiny mutation in a single gene located in chromosome 12 of the DNA strain. This single gene, which is known as PAH, is responsible for containing the instructions to make the PAH enzyme known as phenylalanine hydroxylase. In unaffected people, phenylalanine hydroxylase is produced in the liver where it helps convert an amino acid, phenylalanine into another amino acid, tyrosine. The PAH enzyme is supposed to be able to grab an oxygen atom and transfer it to the bottom of the ring of phenylalanine, which causes a nearby hydrogen atom to stick to the oxygen, turning the phenylalanine into tyrosine. From this point on, the tyrosine and any remaining phenylalanine circulates through the blood stream and eventually to the brain. Those with PKU however, have a mutation in the PAH gene, that can be located anywhere in the DNA bases of the gene (this is elaborated on in Williams', Mamotte's, Burnett's article). Different mutations to the gene have different effects on it, some alter the shape of the gene so that the PAH enzyme no longer recognizes phenylalanine, some simply alter the shape of the gene to make the phenylalanine hydroxylase work very slowly, and other mutations even make the enzyme degrade by itself making it essentially useless. Due to the poor performance of the PAH enzyme, regardless of which part of the gene has been altered, the final effect is that excess phenylalanine enters the blood stream and eventually begins to build up in the brain, acting like a toxin and killing neurons.

from my research paper.


So yeah, how do I supplement myself nutritionally for extra mass gain, when i can't eat protein or ingest anything with tyrosine?

[anna-maro]

So what r some things u can eat? How does this effect your life? How does it effect ur general health?

[marcwagz]

So what r some things u can eat? How does this effect your life? How does it effect ur general health?

basically I can eat only carbs and fruits/vegtables.
I cheat on my diet a bit but in general my meals consist of pasta/rice vegtables and anything that isn't meat or protein, so no eggs or anything like that either.

I take a protein supplement twice a day which has been stripped of the enzymes I can't have.

The supplements have 20 equivalent grams of protein each, 153 calories, 17 carbohydrates and not fat.

I have previously considered simply consuming more of the supplements in a day then the prescribed 2, but I think after a while of having to restock me early over and over the hospital would start wondering why I'm using so much.

I do not think I can use any other supplements but I haven't checked that I doubt they are stripped.

[ClubmanGT]

Hey Marcwagz,

Long time PKUer, first time caller. Your situation is much like mine, trying to achieve something without one of the main ingredients. PKU means that you can't break down the Phenylalanine component, which means that it's harder for you and me to build muscle. Not only that, it's harder for us to retain the muscle we have. I can lift weights and smash PB after PB but all I'll do is lose weight and mass and eventually my strength will begin to drop off. If you kick ass in the gym then you'll probably have noticed this happening. Doesn't do much for motivation, does it?

There's a couple of things you can do. You can cheat like you do now (I'm partial to chicken every few weeks myself). As far as people with PKU are concerned, this is a 'dirty bulk'. By making your body process and store excess phenylalanine that it struggles with, you're kicking your body's metabolism out slightly. While this sucks, I've noticed even a few pieces of chicken breast before a workout can make a massive difference afterwards. For you and me, this is a really bad idea, and I have only anecdotal evidence to help you. I know it's not much, but it's worked for me and there's not a lot of good info out there.

1) You'll take longer to make gains, but you'll your muscle recovery times are way shorter than other people if you consume one of your Easiphen or Aminogran or Maxi 10 or whatever you're on immediately after you finish your work out. I guess it's because of the medical grade of the medication we take. Swings and roundabouts, huh? Also, why do all the PKU med names sound like tampon brands?

2) You can take other supplements! They will help you make use of the 'unavoidable' phenylalanine that you take in naturally and you can break down, although this depends what your tolerance levels are like. Personally, Glutamine helped me with muscle gains, and L-Carnitine tabs have been a huge help with metabolism, pre- and post-workout. They have their own side-effects, but none that will effect your PKU. Don't forget thinks like Vitamin B - I struggle to get that from my diet in meaningful quantities.

Hint: Get your medication, find out what's in it. Those amino-acids are fine, and if you can get those in isolation like you can Glutamine, then try tacking some down.

3) Carb up. You're eating ****loads of carbs anyway, so make use of them. I don't know if you can get something like LoProfin flour where you are or a PKU breadmix, but the PKU breads are way way better for you than normal loaves. I think they assume we're going to be deficient so they cram as much stuff as they can in everything we eat. Anyway, if you're going to get your carbs from something, then pharmaceutical-grade bread probably isn't a bad way to get it.

Tyrosine should be OK, it's in all my prescription meds and the LoProfin breadmix so you might want to look into that. Aspartame is bad news, so be careful with sweeteners in any BB products you get. Getting any additional amino-acids helps when you train with PKU. You can make on-diet gains if you take time to figure out how your body deals with food, There's so many of these threads floating around the net where no one ever gets an answer. I hope this helps in some way.

Cheers,
ClubmanGT