PKU | phenylketonuria You're Kidding, Right?

Phenylketonuria (PKU) is the most common inborn error of metabolism. It is an autosomal recessive condition caused by a disorder of metabolism of an amino acid called phenylalanine. It leads to build up of phenylalanine  in the body which can have serious effects on brain development. Children with PKU can grow and develop normally, if they are carefully monitored and given a diet low in phenylalanine.
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A case Explaining the condition to families Statistics Aetiology Presentation Complications Investigations Management Links and resources:
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(This isn’t individual medical advice, please use your own clinical judgement and local guidelines when caring for your patients)