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Phenylketonuria
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 August 2011
6 Resources Found
Results 1 to 6 displayed.
| Title: | Phenylketonuria (PKU) |
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| Publisher: | Better Health Channel |
| Description: | Phenylketonuria (PKU) is a genetic 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. |
| Date: | May 2011 |
| Title: | Newborn screening |
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| Publisher: | Better Health Channel |
| 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. |
| Date: | Jan 2011 |
| Title: | Tyrosine supplementation for phenylketonuria |
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| Publisher: | John Wiley and Sons, Ltd. for The Cochrane Collaboration |
| Description: | Phenylketonuria is an inherited disease. People with phenylketonuria can either not process phenylalanine from their diet at all or only in part. High blood levels of phenylalanine can cause brain or nerve damage. A diet avoiding foods high in phenylala... |
| Date: | Jul 2010 |
| Title: | Sapropterin dihydrochloride for phenylketonuria |
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| Publisher: | John Wiley and Sons, Ltd. for The Cochrane Collaboration |
| Description: | Phenylketonuria occurs due to an inherited deficiency of the enzyme phenylalanine hydroxylase. If untreated it causes an excessive accumulation of the amino acid phenylalanine in the body which prevents normal brain development. The established treatmen... |
| Date: | May 2010 |
| Title: | Dietary interventions for phenylketonuria |
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| Publisher: | John Wiley and Sons, Ltd. for The Cochrane Collaboration |
| 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 can also lead to mental handicap. Newborn babies with PKU are given a special die... |
| Date: | Sep 2009 |
| Title: | Newborn screening: test to protect your baby |
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| Publisher: | Multicultural Health Communication Service (NSW) |
| Description: | Routine test for newborn babies in NSW. Over 30 rare disorders can now be detected by the newborn screening test. |
| Date: | May 2003 |
Results 1 to 6 displayed.
