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pku test abnormal

My granddaughter had an abnormal pku test. She had another one done at 4 weeks old and we were told it came back abnormal. She is now 6 weeks old. We have to take her back for another test tomorrow. We were told that it may be her thyroid. What all is tested for in the pku screening?

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Haley914

Asked by Haley914 at 6:11 PM on Oct. 26, 2010 in Babies (0-12 months)

Level 1 (2 Credits)
Answers (6)
  • I am not sure what is in the pku testing but I know I have a little girl at school that has it and she can only have fruits and veggies and a small bit of meat at home her mother regulates.
    Here is a bit of info for you

    The initials "PKU" stand for phenylketonuria. This is an extremely rare genetic disorder where a person has a deficiency in the liver enzyme phenylalanine hydroxylase. This enzyme is necessary to metabolize the amino acid phenylalanine which is found in most foods. If a baby cannot metabolize the large amounts of phenylalanine found in breast milk and most formulas, metabolites will accumulate in the blood. If this disorder remains undetected and untreated, infants may experience tremors, seizures, eczema, hypopigmentation, hyperactivity and a failure to grow and develop at a normal rate. By six months of age, the untreated infant with PKU may begin to show signs of mental retardation and could eventually h
    Moms_Angels1960

    Answer by Moms_Angels1960 at 6:26 PM on Oct. 26, 2010

  • have an IQ of less than 50.

    When an infant is tested soon after birth and is found to have PKU, proper treatment can prevent the development of these serious complications. The treatment involves a very restrictive diet low in phenylalanine. This diet should be implemented as soon as the PKU disorder is detected to achieve the optimum outcome. Since an infant with PKU cannot metabolize breast milk or regular formulas, he must be given a special formula such as "Lofenalac" which is specifically designed for babies with PKU. As the child grows older and begins eating other foods, the parents must carefully calculate and strictly limit the amount of phenylalanine in his diet. This is a difficult diet to follow because phenylalanine is found in very large quantities in high protein foods and in varying amounts in most other foods.

    Moms_Angels1960

    Answer by Moms_Angels1960 at 6:32 PM on Oct. 26, 2010

  • other foods.

    There is still controversy within the medical community as to how long a child with PKU must remain on this restrictive diet to prevent serious complications. In a 1987 article in the Journal of the American Medical Association, Richard Koch, M.D., head of the coordinating center at Children's Hospital Medical Center, Los Angeles, for the US-Canadian study, is quoted, saying "the phenylkentonuric individual must be treated for a long time. At one time, 90% of the children were taken off the diets. But now it seems the ones who stayed on the diets are doing much better."

    Moms_Angels1960

    Answer by Moms_Angels1960 at 6:37 PM on Oct. 26, 2010

  • Fortunately, the incidence of this disorder is only 1 in 10,000 to 12,000 births. It is most often found in white and oriental populations and is rarely seen in black children. All 50 states mandate that every newborn must receive a PKU test. Infants are frequently screened for thyroid disorders and galactosemia (an inherited inability to digest milk) simultaneously with the PKU test. The test is usually performed at the hospital by taking a blood sample from the baby's heel. The PKU test is not accurate unless it is done at least 48 hours after the infant's first breast milk or formula feeding. If a baby is discharged from the hospital before this time, this test can be performed in an outpatient setting. It is imperative that parents of infants born outside the hospital take their newborns to a clinic, lab or hospital to have this test performed also
    Moms_Angels1960

    Answer by Moms_Angels1960 at 6:37 PM on Oct. 26, 2010

  • Since PKU can be treated successfully solely through dietary measures, it would be tragic for a child to develop the serious complications of the untreated PKU simply because he was never tested.

    While the PKU disorder creates severe complications when left untreated, the development of these complications can be prevented if it is diagnosed soon after birth and proper treatment is begun immediately.

    This is all i have for you Good Luck
    Moms_Angels1960

    Answer by Moms_Angels1960 at 6:38 PM on Oct. 26, 2010

  • the pku is a term often used for newborn screen the ACTUAL PKU is for Phenylkeytoneurea which is a protien some babies can not metabolize due to a genetic miss-- they are on a life time special diet and if you follow it correctly you'll have no problems if you dont the buildup of the biproducts will cause MR of the brain and eventually death

    the rest of the newborn screen tests for thyroid and like 10 other genetic things... find out what is the one red flagging them on your DGD and ask for a speicialist referal
    my very good friend has a DD who is 10 with PKU drop me a note if you'd like me to hook you up with her online she is an excellent resource -of her 3 kids only 1 got the syndrom but she is a very healthy 10 y/o
    MELRN

    Answer by MELRN at 7:23 PM on Oct. 26, 2010

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