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Thursday, November 26th 2009, 5:43pm

Untreated PKU in adult age?

I've googled and googled but I can't find any info about untreated PKU for adults. I have much problems with my health, I can't barrely stand it any more. My thougts is, can you have PKU that makes ju feel sick when you gets older? As child I began to have tremors in my hands, very light but still. Today my tremor is so incresed that I have trouble with it very often, now the tremor is in my legs too, and head/neck. Other symptoms that I have is extreme fatigue, pains (a lot of them), dizziness, trouble with concentration (very much), sleeping problems, depression, sinusus problems, bad memory, swollen lymph nodes, mood swings, muscle twitching, cold feets.. Yeah the list is long, I should go to a doctor and look this up. They havn't found any other cause, yet... so yeah. And my son have PKU, is there a chance that I can have it too? Well he has the worst variant of PKU, is there at least any little chance that I can have PKU when I have a son that have it? And can I have a variant that he doesn't have then? Thanks for any answers. And my age is 24 btw.

KateGilmore

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Saturday, November 28th 2009, 11:08am

Hello truxx,

welcome to the board, first of all...

I definetely would see a doctor - all of this problems have to be examined...! I think this might be an option, although the cases of untreated
(and undiscovered) PKU are very rare since the blood check is made for every baby... but I also heard of a case where the blood cards were
mixed up and so a girl with PKU got the information everything is ok and another baby without PKU got the wrong diagnose....

I as PKU patient can see different symptoms of yours if I don't stick to the diet, I had depressions too and trouble with concentration but I
never quit the diet totally!

Please let us know the result of the date with the doctor...

By the wy, where do you come from?

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Saturday, November 28th 2009, 11:31am

Hi

Hi Trux



Sorry to hear that you are feeling rather unwell. Lots of the sypmtons admittadley are similiar to that of PKU but judging by your age (24) I would imagine that PKU would have long been detected in you by now, in fact it would have been detected at birth. When you start talking about genetics of PKU it starts to become a little more complicated because you either have it or you don't, regardless of wither your son has it or not.



One thing is for certain, at least one half of your sons parents are carriers of PKU, however I must stress that this doesn't mean to say you actually have PKU, all it means is that you are a carrier of that gene. However, in your situation it could be either way because while as Kate has already said, it is rare but can happen that doctors maybe missed something at birth, i would suggest asking your doctors to perhaps have the guthrie test, its really important you ask for that because many doctors don't understand nor have a clue about PKU and i think in your circumstances you need to go down and check all avenues, regardless of how unlikely it may be.



Like your son and so many people on here, I have Classical PKU, which means I have the most severe case of it. You need to keep yourself in good health too so i would strongly advise you see your doctor and remember to ask for the Guthrie test. I have always known I had PKU, but in my teenage years kinda went of the rails and now in truth im paying for it, please Trux don't make the same mistake by pleading ignorance with it, go and get checked out and let us know as soon as you know anything about how it went...



I'm not in anyway saying you have PKU, but like I said its important to explore all avenues.



Owen

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Monday, November 30th 2009, 2:47am

In order for your son to have PKU, you and his mother must at least both be carriers. Since your son carries a gene from you and a gene from his mom, it is possible that on the off chance you indeed did have undiagnosed PKU, you could have a different variant or form of it than he has. Given your age, you would have likely been screened for PKU when you were born. That being said, the only way you will alleviate your concern is to get it checked out -- ask at your son's clinic - they will understand what they are testing for and likely get results to you quicker. From what I understand there are people who have PKU who have milder forms of PKU and are untreated and do okay, but they are in the minority.

Good luck and keep us posted!

Brenda

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Wednesday, December 23rd 2009, 5:18pm

Thanks for all your answers, really appreciate it! I think I got what you guys wrote, my concentration is really really bad. As fast as I read to much text I feel like dizzy or something. Well.. I will sure get tested, I don't know when but as soon as I can. Going to see my neurologist pretty soon again so I can ask they if they can run a test or I can just call the PKU lab and ask if they can send me that paper ju get blood on and send it away. I was in contact with them for a year ago, I did the test home and sent it away but they never called.. So well, I will call them when I can. Now it's christmas time and everything.

I think I am going to try to stay away from high protein food a while, my pains goes in periods and I've already 1-2 years ago realized that after eating food I had fatigue and felt very strange, ill.. I'm in a little period now with pains again, finally got out from one recently.. It's like today, I haven't eat a thing and I don't have this extreme pains that feels like be cutting up from the inside. I don't know if it's a coincidence.. But I think it's worth a try and hold to low protein food. I really like the most food so, unfortantly I know there isn't much food in the store without proteins.. But I like sallads and so on, or I love it! Well I think I'll try for a time or so :)

I saw a video on youtube a while ago, a girl that explained a little about her PKU and so on.. She explained that if she eat a hamburger today the symptoms for eating it could come a week after and.. didnt have to come directly. But I guess everyone is different in this case to like in everything else. Well, thanks for your responses really!! Feel free to write or ask anything you want.

Edit: To KateGilmore:

I am under investigation for my tremors, have only seen my neurologist doctor once and I talked about my other symptoms but somehow all the doctors don't listen or take you for serious. Mostly doctors here says all is in your head, well if they could feel what I feel they would know I suffer!! And I am from Sweden :)

Merry Christmas!

KateGilmore

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Thursday, December 31st 2009, 10:28am

Hi Truxx,

I hope you find a solution soon... if you get tested and it's not PKU, have a try and get a test for several foods - you could also be allergic to something. My friend has a lot of allergics to different foods and she told me that this shows different for every patient... in her case she gets a rash on her skin and it gets very dry.. Maybe it could be also something like that.

Wish you all the best, keep us updated and have a good celebration tonight, happy new year :)

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Tuesday, January 5th 2010, 1:39am

Sorry to hear about all those symptoms I have all of them plus more when I am off diet so I know how sick you must feel. There was a case and probably others as well of adults who have just been diagnosed with a form of PKU which is interesting so I would definately check this out but it could be allergies as well. Experiment with Low Protein foods but make sure that you don't go to low on the protein as your body needs the vitamins and minerals from food. My sibling and parents find that they are unable to eat a lot of protein which is interesting they get headaches after eating meat etc. Keep us posted and hope that you feel better soon! :)
debbie colyer