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INFORMATION FOR PARENTS/CARERS PHENYLKETONURIA - (PKU)

Source: www.chw.edu.au
Topic: Phenylketonuria
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Sort Desciption: PKU is an inherited disorder which prevents the normal use of protein food, and causes changes in the body chemistry which without treatment can lead to severe mental retardation. ...

Content Inside:
What is Phenylketonuria (PKU)?

PKU is an inherited disorder which prevents the normal use of protein food, and causes changes in the body chemistry which without treatment can lead to severe mental retardation.

How is PKU detected?

All newborn babies are screened for several treatable disorders by a blood test taken at about three days of age. Phenylketonuria (PKU) is one of them. About 1 in 10,000 â 14,000 Australians has PKU, and between 20-25 babies are diagnosed with PKU each year, of which about 8 â 10 babies are diagnosed in New South Wales and the Australian Capital Territory.

How does PKU cause problems?

PKU is a condition in which the body is unable to break down one of the protein building blocks from food. These building blocks are called amino acids and one of them is phenylalanine. In PKU the phenylalanine cannot be processed (metabolised) normally and builds up in the blood and tissues. The high phenylalanine level can prevent the brain from developing as it should. Progressive mental retardation results if the condition is not treated in early infancy.

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