Guthrie Test and PKU in Babies

The blood of a two week-old infant is collecte...

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The Guthrie or heel prick test as it is commonly known is performed when baby is about five days old.  A small sample of blood is collected by pricking the baby’s heel.  The baby’s blood is then analysed for various conditions such as cystic fibrosis, hypothyroidism and Phenylketonuria

Phenylketonuria (PKU) is a genetic disorder that occurs as a result of an excess of phenylalanine, which is an essential amino acid that is a building block of protein. This excess is caused because the enzyme responsible for processing it is absent.

There is no known cure for PKU, however it can be treated via a special diet intended to lower the body’s phenylalanine levels.  Instead of consuming high protein foods babies and children diagnosed with PKU consume alternatives enriched with protein substitutes. In the first few days after diagnosis babies are usually given a special low phenylalanine formula until their phenylalanine levels even out.   Parents will be given medical advice to help maintain their baby’s phenylalanine levels.

Babies with PKU can start eating solid foods at the same time as any other baby, as baby progresses and more solids are introduced, special, low protein foods will be available on prescription from your local chemist.

If you would like further information / advice on PKU and then please contact the National Society for Phenylketonuria (NSPKU)

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4 Comments (+add yours?)

  1. Leigh Garster Nutritionist at Nutricia
    Jan 19, 2011 @ 14:35:39

    Hi

    If you have PKU or are a parent of a child with PKU and want to share experience, advice, tips or ask questions you can join the PKU friends community by following the link:
    http://www.facebook.com/pages/NutriciaSHS-PKU-Friends/170608146307878?ref=ts

    Reply

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