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David Gray, Senior Specialist Dietitian at Guy’s and St Thomas’…
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Phenylketonuria (or PKU as it is commonly called) is an inherited (autosomal) disorder of phenylalanine metabolism, caused by a deficiency of the enzyme phenylalanine hydroxylase. It is the most common Hyperphenylalaninemia and can be classified into 3 groups:
* Classical Phenylketonuria (PKU), where the dietary tolerance to Phe is less than 350-400 mg per day and then residual activity of PAH is less than 5%.
* Moderate or Mild Phenylketonuria (PKU), dietary tolerance to Phe is less than 350-600 mg per day and then residual activity of PAH is less than 10%.
* Benign Phenylketonuria (PKU), where there are no dietary restrictions of Phe but the residual activity of PAH is less than 5%.
People with this condition will lead normal lives as long as they follow their prescribed treatments.
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