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Phenylketonuria (or PKU) is an inherited disorder that, if left untreated, changes cells inside the brain and can lead to mental retardation. Fortunately, through routine newborn screening, almost all affected newborns are now diagnosed and treated early, allowing them to grow up with normal intelligence.
Follow the links below to find information about phenylketonuria.
Reviewed July 2009
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| Title: |
Newborn screening
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| Publisher: |
Better Health Channel
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| Description: |
Every newborn in Australia is given a blood test to check for the presence of particular genetic or metabolic disorders, including phenylketonuria (PKU), hypothyroidism and cystic fibrosis. The few drops of blood needed for the test are taken by pricking your baby's heel.
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| Date: |
Dec 2008
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| Title: |
Phenylketonuria (PKU)
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| Publisher: |
Better Health Channel
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| Description: |
Phenylketonuria (PKU) is an inherited disorder. It occurs when the body cannot break down a substance in food, called phenylalanine. As phenylalanine builds up in the blood, it causes brain damage. Early detection and intervention with a special diet can prevent intellectual disability and result in normal growth and development.
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| Date: |
Apr 2008
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| Title: |
Dietary interventions for phenylketonuria
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| Publisher: |
John Wiley and Sons, Ltd. for The Cochrane Collaboration
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| Description: |
Phenylketonuria (PKU) is an inherited disease that affects the breakdown of protein. High levels of the amino acid phenylalanine in the blood damage the nervous system and lead to mental handicap. Newborn babies with PKU are given a special diet low in ...
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| Date: |
Feb 2007
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| Title: |
Tyrosine supplementation for phenylketonuria
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| Publisher: |
John Wiley and Sons, Ltd. for The Cochrane Collaboration
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| Description: |
People with phenylketonuria (PKU), an inherited disease with insufficient phenylalanine hydroxylase (liver enzyme), cannot or can only partially process phenylalanine from their diet; high blood levels of this can cause brain or nerve damage. A diet avo...
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| Date: |
Aug 2005
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| Title: |
Newborn screening: test to protect your baby
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| Publisher: |
Multicultural Health Communication Service (NSW)
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| Description: |
Routine test for newborn babies in NSW. Over 30 rare disorders can now be detected by the newborn screening test.
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| Date: |
May 2003
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| Results 1 to 5 displayed. |
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