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Phenylketonuria (PKU)

The test used to screen for PKU is phenylalanine (phe), which is measured by tandem mass spectrometry.

Tyrosine is used as a second line test. Initial clinical investigation, follow-up and treatment are carried out by the metabolic team at RMCH. In the case of a positive PKU result on screening, the specialist metabolic nurse will telephone the relevant community midwife with instructions on how to proceed and will organise an urgent appointment at RMCH for the following working day.

Elevated phe results can be also be caused by liver dysfunction, parenteral nutrition, galactosaemia, tyrosinaemia type 1 and disorders of pterin metabolism. Diagnostic testing includes analysis of blood amino acids and pterins.