PKU | phenylketonuria
Episode description
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.
You don’t want to miss:
- A case
- Explaining the condition to families
- Statistics
- Aetiology
- Presentation
- Complications
- Investigations
- Management
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(This isn’t individual medical advice, please use your own clinical judgement and local guidelines when caring for your patients)