Blood phenylalanine concentration - normal at birth but rises thereafter (more rapidly in males). Blood screening for phenylalanine identifies most cases at the age of 1 week; urinary analysis at this stage is less accurate. Concentrations of many other amino acids in the blood are generally significantly reduced
Phenylalanine challenge - this is contraindicated in patients with known phenylketonuria - if this is undertaken then plasma tyrosine does not rise
Urine neopterin to biopterin ratio - t his can be done using a random urine specimen. Inborn errors of BH4 synthesis can also cause hyper-phenylalaninaemia. It is essential to exclude because treatment for defects in BH4 synthesis is different from treatment for PKU.
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