Could PKU be involved in my problems?

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    • Could PKU be involved in my problems?

      I was apparently diagnosed with a mild form of pku at birth in the mid eighties. I remember going to the hospital for check-ups regularly, was not allowed to eat many eggs or nuts, and early on my meat portions were kept down a bit, and I couldn't drink anything with sweeteners. That all mostly stopped around age 7 or so.

      My mother is a bit vague on details, all she seems to know is that it was a mild form of pku and they said I didn't have to watch my diet anymore.

      I was always shy, but in my teens I developed quite severe social anxiety (undiagnosed), have had bouts of depression (undiagnosed). Low self esteem and anxiety around people has basically defined my life.

      I had not been aware that the advice nowadays was to stay on a special diet and did not know that people had this formula stuff until I read about it by chance recently.

      I have always been told that because it was such a mild form, it was nothing for me to bother with any more. I do not know what my blood levels were like when they were checking them.

      Do you think pku could be linked to the anxiety etc? Do you think it's worth trying to find out?

      Thank you for reading :)
    • Hello there,

      if not treated properly, PKU can lead to mental problems like depression and anxiety. However, of course these problems can also be caused by other factors.

      What it think you should do is have your blood levels checked and have a PKU-related check-up. A "mild" PKU is quite a large range, so maybe your blood levels have been quite high ever since you have started eating normally, even though they don't go up as high as with patients with a classical PKU. Maybe lowering your protein intake might help your mental health, or taking a PKU-formula.
    • Mental problems can be related to PKU, but they don't have to. The thing with PKU is that the high level of phe in the blood stream (and thus the brain) hinder the proper development of the brain. Just because the development is finished at some point does not mean that the phe is less of a neurotoxin. I just does not cause such severe damange anymore. Now, with mild forms of PKU there is a certain rest activity with the enzyme that metabolizes phe. That means you can eat more protein than someone with classic PKU since your body can handle a certain amout for itself. The point is... which is why you weren't allowed many eggs, nuts, meat.... people with mild PKU still a have a certain threshold of how much their body can handle and once that is crossed, it will accumulate in their bloodstream as well and influence brain activity. Even though a child with mild PKU may have acceptable blood levels, it does not mean that they stay acceptable. When a child grows their food intake will change, bigger servings, more meat, less greens, more burgers, pizza etc.... Just because you didn't exceed your tolerance as a small child does not mean you don't exceed it now.

      The second part is that PKU patients need a protein supplement since they need much more protein than they may savely eat. Therefore, they receive a phe-free protein formula which contains all the other amino acids, amongst which is tyrosine. Tyrosine is normally made from phenylalanine and is need for the production of dopamine and serotonine, which are neurotransmitters. An imbalance of those is closely linked to depression, anxiety disorders etc. Since with a mild form of PKU you can metabolize a certain amount of phe, your body can build some amount of dopamine and serotonine. The question is: Is that enough?

      So what should you do?
      - Start a protocol of your food intake. You need to have an inkling of how much protein you eat on average. Maybe it would be enough to forgo food with a lot of protein from time to time, less cheese, no nuts, smaller servings of meat like you did as a child.
      - Get in contact with a clinic specialized in PKU. Maybe you need at least a small amout of formula to supplement the protein (and tyrosine) you get from food.
      - Get your blood levels tested, how high is your phe level, your tyrosine level? Have this test done several times to be sure, just because you didn't exceed your tolerance the first time does not mean that you don't the rest of the time, maybe you just ate less protein coincidently. Maybe you can eat a lot of protein for a week before one bloodtest to see how it changes your levels.
    • Your GP can send your blood to a laboratory, but it needs to be one that can check the phe levels. Not all laboratories have the necessary equipment. Futhermore, PKU is such a rare disease that many GPs have hardly any knowledge about it apart from the fact that it exists. The paediatrician of my son sometimes asks me how to handle a certain situation since she is aware that I am more knowledgeable about PKU than she is. Get in touch with your national PKU society. They can tell you which PKU clinic is in your area and how to get an appointment, maybe even without involvement from your GP. Sometimes doctors rely on information that is outdated. In the beginning of PKU treatment it was thought that the diet could be stopped with a certain age since the brain is fully developed. (I was taught that as well in biology lessons in school.) So it might be that your doctor doesn't see the necessity of further treatment since he relies on material he studied 20 years ago. But since then research has shown that adults without diet indeed develop health problems.