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My brothers baby had her PKU done in the hospital. Said it was way high, to come back andhave another one done. That was three weeks ago, sstill no results in fact they can't find her test.
Anyway, what does it mean to have a HIGH PKU? And they are telling the parents that she has thyroid problems....she is only 5 weeks old.
Any help...

Answer Question

Asked by racingmomma at 6:23 PM on Sep. 14, 2009 in Babies (0-12 months)

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Answers (3)
  • I'd have to pay attention to the medical experts helping the parents.

    Answer by Anonymous at 6:25 PM on Sep. 14, 2009

  • Definition

    Phenylketonuria (PKU) is a rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine.

    Alternative Names

    PKU; Neonatal phenylketonuria

    Causes, incidence, and risk factors

    Phenylketonuria (PKU) is inherited, which means it is passed down through families. Both parents must pass on the defective gene in order for a baby to have the condition. This is called an autosomal recessive trait.

    Babies with PKU are missing an enzyme called phenylalanine hydroxylase, which is needed to break down an essential amino acid called phenylalanine. The substance is found in foods that contain protein.

    Without the enzyme, levels of phenylalanine and two closely-related substances build up in the body. These substances are harmful to the central nervous system and cause brain damage.


    Answer by piwife at 6:52 PM on Sep. 14, 2009

  • Phenylalanine plays a role in the body's production of melanin, the pigment responsible for skin and hair color. Therefore, infants with the condition often have lighter skin, hair, and eyes than brothers or sisters without the disease.

    Other symptoms may include:

    Delayed mental and social skills
    Head size significantly below normal
    Jerking movements of the arms or legs
    Mental retardation
    Skin rashes
    Unusual positioning of hands
    If the condition is untreated or foods containing phenylalanine are not avoided, a "mousy" or "musty" odor may be detected on the breath and skin and in urine. The unusual odor is due to a build up of phenylalanine substances in the body.


    Answer by piwife at 6:54 PM on Sep. 14, 2009

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