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PKU Specialist in Ireland?

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  • 22-07-2007 5:47pm
    #1
    Ronan H
    Registered Users Posts: 1,058 ✭✭✭


    Hi all, this seems like the most appropriate category for this thread sohere goes:

    I work in residential care and one of the people i support has been diagnosed with PKU. It has started to affect him a lot in the past few months so i was wondering if anyone knows if there is a specialist in Ireland that deals with it or what sort of support there is out there for it?

    I would be very happy to hear peoples opinions on this...

    Thanks.

    Ronan


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    #2
    tbh
    Closed Accounts Posts: 15,914 ✭✭✭✭tbh


    some background info:

    PKU belongs to a class of diseases referred to as "inherited metabolic diseases," or “inborn errors of metabolism.” Most of these diseases are rare (occurring in approximately 1 in 13,500 births), and include conditions like albinism and congenital hypothyroidism.

    Metabolic diseases affect the body’s ability to perform certain chemical processes required for normal growth and development. For people with PKU this means that they have trouble producing a certain enzyme called phenylalanine hydroxylase (PAH), which is required for the breakdown of phenylalanine (Phe), an amino acid found in foods containing protein. Even though they produce some working PAH, most of the PAH they produce is defective and doesn’t function the way it’s supposed to, and thus isn’t able to properly break the Phe down.

    PAH is a molecule produced in the liver, which sets in motion a chemical reaction that converts Phe into another amino acid called tyrosine or Tyr.

    For people who don’t have PKU, the liver produces enough working PAH to convert Phe into Tyr, and as a result, all the Phe is used up. For a person with PKU, Phe cannot be turned into Tyr and thus excess Phe builds up, passes into the blood supply, and circulates throughout the body, eventually ending up in the brain. While a certain amount of Phe is essential for normal growth and development, excess Phe in the brain causes damage, particularly in very young children.

    The good news is that the brain damage can be prevented. Currently, this is accomplished by restricting the amount of Phe ingested.

    Foods that are very high in Phe, such as meat, eggs, dairy, and nuts are avoided completely. These foods are replaced by a medical protein formula that has no Phe. F

    oods with moderate amounts of Phe can be eaten but in limited quantities. These foods include certain fruits and starches. Most foods have some Phe in them, meaning people with PKU must always be very careful about what they eat. Therefore, it is important for someone with PKU to track daily intake of Phe.


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    #3
    d-redser
    Registered Users Posts: 529 ✭✭✭d-redser


    Head wrote:
    Hi all, this seems like the most appropriate category for this thread sohere goes:

    I work in residential care and one of the people i support has been diagnosed with PKU. It has started to affect him a lot in the past few months so i was wondering if anyone knows if there is a specialist in Ireland that deals with it or what sort of support there is out there for it?

    I would be very happy to hear peoples opinions on this...

    Thanks.

    Ronan

    Hey Ronan,

    I have PKU and there is no specialist as such. Each person who has PKU attends the Metabolic Unit in Temple Street, Dublin and sees a dietician and doctor every year. They go through diets, work out how many exchanges a person is allowed and also go through all the latest reseach/news.

    Most people are screened for this when they are born and automatically a new diet is adhered to so it's very strange that they are only detected now. This can have a major impact on that person.

    What age are they??


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    #4
    d-redser
    Registered Users Posts: 529 ✭✭✭d-redser


    Ronan,

    Just wondering if there is any update on the patient?

    Have there been any changes made to his diet? Any results?


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    #5
    Stargal
    Registered Users Posts: 3,626 ✭✭✭Stargal


    d-redser wrote: »
    Most people are screened for this when they are born and automatically a new diet is adhered to so it's very strange that they are only detected now. This can have a major impact on that person.

    What age are they??
    Seconded - that sounds very unusual. It must have had quite an effect on the person if they weren't diagnosed at birth?

    My dad acquired PKU late in life but it was fairly unusual circumstances - he had a liver and kidney transplant in 2003 and the donor had PKU so as a result my dad now has PKU.


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    #6
    d-redser
    Registered Users Posts: 529 ✭✭✭d-redser


    Stargal wrote: »
    Seconded - that sounds very unusual. It must have had quite an effect on the person if they weren't diagnosed at birth?

    My dad acquired PKU late in life but it was fairly unusual circumstances - he had a liver and kidney transplant in 2003 and the donor had PKU so as a result my dad now has PKU.


    :eek: That is mad stargal!! How is he coping with it? How many exchanges is he on per day and what formula is he using!

    I cannot imagine how I would feel after living a totally worry free like when it comes to food and then all of a sudden having to watch/count every single mg of protein every day and take formula and tabs!!

    One of my friends is incredibly fascinated with metabolic disorders and once I show her this she will no doubt have to look this up and research it!!


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    #7
    Stargal
    Registered Users Posts: 3,626 ✭✭✭Stargal


    d-redser wrote: »
    :eek: That is mad stargal!! How is he coping with it? How many exchanges is he on per day and what formula is he using!

    I cannot imagine how I would feel after living a totally worry free like when it comes to food and then all of a sudden having to watch/count every single mg of protein every day and take formula and tabs!!

    One of my friends is incredibly fascinated with metabolic disorders and once I show her this she will no doubt have to look this up and research it!!
    Yeah it really was fairly bizarre. When they found the organ donor for him, we were told he would probably get PKU since the donor had it. It didn't really mean much to us at the time tbh - he was so ill that we were just glad he was getting the transplant.

    Anyway, his doctors have said that it's probably the only case in the world of acquired PKU, which is slightly mind-boggling :p

    He did find it very tough in the beginning - it was such a big change. His diet isn't as strict as most people's is, though. He's still allowed some of his old foods - he's on 28-30 exchanges a day, which is really high as far I know? How many exchanges do you have? He can have meals with a small amount of meat in them, but he has special milk (Sno-Pro), bread, cereal, and formula (PKU Express Cooler).

    If your friend is interested, I wrote an article about my dad for PKU News, a newsletter in America for people who have it. It's about the circumstances of how he got it and how he adjusted when he came out of the hospital but uh, it's probably not much use if your friend is an expert on metabolic disorders since I'm not totally au fait with all the medical terminology!

    How do you find living with it d-redser? Is it still weird or are you used to it at this stage? Dad doesn't know anyone else who has it, so he's doesn't really have a point of comparison so it's always interesting to hear other people's experiences of it.


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