PKU.com Community Discussion Forum Parent support Three Years to Detect PKU

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  • #6539
    Avatar of K
    rahman
    Member

    Dear Forum Members,
    I am from India and my nephew is now in KSA.
    He born on 13th Aug 2004. The delivery was Normal and everything was going fine. At age 1 he was not able to crawl or no major activities. We have consult with lot of doctors locally(India). But they told us some kids took much time to develop activities, at the age two we had to do a MRI scan and was found normal.
    Recently, they are in KSA (Bro-in-Law is working there) consult a Doctor in Jeddah and he declared he has PKU.
    I am very much confused. Normally PKU is nor measured in Hospitals? I dont know that.
    Dear Readers,
    Is it possible to cure at this age. (38 months). Where can I get better consultation in Asia?
    I would appreciate your knowledge sharing on this issue..
    Thanks for your time…
    Regards
    Rahman

    #6540
    Avatar of
    Anonymous

    hey im sorry to tell u there is no cure for PKU no matter the age. but this is not a awfull thing, PKU is treatable with a resrticted phe diet and a specail formula. i am 21 yrs old and i have had PKU sine birth though i was diagnosed when i was 2 weeks. im alittle concerend that ur nephew was diagnosed so late i would recomend that u have him see a pku doctor and dietican they will be able to tell u if there are any side effects from no0t being dagnosed and provided the proper treatment. u see pku is a genetic inborn error of metabolism, our bodies are missing the enzyme to break down phenylalanine into tyrosine, there for creating toxic leves of phenylalaine to build up in the brain and this coudl eventally casue brain damamge and other problems like slow motor skill and behaviourl and neroclocial problems. but like i said with a resricted low phenylaline diet and special formula PKU is treatable and u can grow up and have a normal life, for example i graded from highschool 2 yrs ago, i live with my long time boyfriend , im a recepsionist and will be goign to college nextyear. currently i am trying to organize a pku walk a thon to help spread awarness for pku and raise donatiosn for the low phe food products ..also im working on a webiste for pku (http://www.PKUersUnited.piczo.com) so u can see that if the low phe diet and foramla are used PKU is managble and treatable. i wish u and ur family all the best and ill pray for ur nephew that he is well and that it was caugth in time. if u would like to chat further about pku feel free to contact me.. or if u just want to chat in genral feel free to contact me. take care and all the best!

    #6550
    Avatar of Breanna
    BreaMarie91
    Member

    Rahman-
    Basically a person with PKU has either a missing or deficient enyzme in the liver called Phenylalanine Hydroxalase (or PAH). PAH is known for breaking down protein, more specifically an amino acid in protein called Phenylalanine (or Phe). Since people with PKU either don’t have PAH at all or they do have it but it doesn’t work very well their bodies can’t break down protein like most people do. So after eatting too much protein it begins to accumulate in the blood. If this happens then the Phe can block the blood and oxygen flow to the brain. That can cause things like tremors/shakes, headaches, lack of concentration, lack of energy, lack of balance, irritablity, slow development, lower IQ and eventually siezures and possible mental retardation. Because of all these problems due to no treatment is is very important that your nephew is taken care of as soon as possible to prevent any more damage!
    There is no “cure” for PKU at any age. Although there is a treatment. The treatment for PKU is a life long low protein diet. This diet would exclude meat, dairy, most grains, beans, nuts etc (basically anything high in protein thus the name Low protein diet). He would have to drink a special metabolic formula to get nutrients and amino acids that he won’t get because he isn’t eatting high protein foods. He would also need regular blood tests done to check how much phenylalanine is in his blood and to monitor his tyorosine level. The formula also gives tyrosine and that is another amino acid that is essential to grow and develope.
    This is a very short explaination of what PKU is, if you have any questions at all please do not hesistate to ask. I’m sure that everybody here, myself included, will try to help you as much as we can. I am not sure where you would go to get help with your nephew, but I would first think about calling as many hospitals/doctor clinics etc and see if any of them can tell you where you would beable to get in touch with a medical geneticist, dietitian, nutritionist, genetic counselor or somebody else who has experience with PKU. nGood luck with this!
    Breanna 16 with Classical PKU

    #6591
    Avatar of Vickie
    vbsbtbk2007
    Member

    hi im indiana and my granddaughter has phu since she was born.im still tryin to learn it.her pku leavel keeps on gettin high or low.and i dont know what do to help to keep it down.

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