PKU.com Community Discussion Forum New to PKU.com what is pku?

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  • #5717
    Avatar of lila
    ili_s1
    Member

    what is pku what are the symptoms?

    #5718
    Avatar of Breanna
    BreaMarie91
    Member

    Hi, nPKU is a genetic metabolic disorder where the enzyme found in the liver called Phenylalanine hydroxylase (or PAH) is either missing or defiecent. PAH is the enzyme that in non-PKU people it processes an amino acid found in protein called Phenylalanine (or Phe for short). Since PAH is either missing or defiecent in PKU people their bodies can’t break down Phe propperly so if they eat to much for their bodies to handle the phe will begin to build up in the blood stream. Eventually after a long period of time of to much Phe building up in the blood stream the Phe will start to block the blood and oxygen flow to the brain. This can cause things like headaches, vomitting, lack of balance, lack of energy, irritability, lower IQ, tremors/shakes, seizures, eventually mental retardation if people with PKU are not treated early enough and there are other symptoms but I can’t think of others at the moment.
    PKU is diagnosed by what is called the Newborn screening test and then babies with PKU are put onto a special diet which is called a Low Protein diet. This diet is basically self discribed, people on this diet cannot eat things high in protein because usually things high in protein are high in Phe. This mostly rules out: meat, dairy products, most grain products, nuts, beans and other things high in protein. The diet will mostly consist of fruits, vegetables, starchy foods and specially made foods that are made to not have much Phe in them. They also have to drink a special metabolic formula so that they can get all of the vitamins and nutrients that they are missing because they are not eatting things higher in protein. And they half to check their blood levels to check how much Phe is in their blood. Besides that Phenylketonurics can live just the same as others if they keep their blood levels where they need to. The only real visiable sypmtom is that usually (but not always) people with PKU have lighter hair and skin then their siblings and usually have blue eyes (which I am an acception to because my eyes are brown, but my hair and skin is still lighter). If the diet is followed then besides that there are no other symptoms.
    Also when a women with PKu wants to have a baby she should be on her PKu diet (which is highly recommended to be a life long thing) and have good levels to have the healthiest baby possible. If a pregnant women does not have levels where she should then she could have a spontatneous abortion or premature birth. The baby could also have congential heart problems, microphaly(small head), and be mildly-severly retarded. If the diet is followed the baby can be just fine.
    I hope this helps, if you have any other questions just ask and I can try to answer the best I can. nBreanna n15 w/CPKU

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