Phenylketonuria
Adjunct
In patients with phenylketonuria the endogenous synthesis of tyrosine from phenylalanine is impaired by phenylalanine hydroxylase deficiency. The strict low-protein diet causes secondary tyrosine deficiency, replaced through specialised amino acid formulas. ESPGHAN and SSIEM 2017 European guidelines include tyrosine in replacement therapy. Self-administered L-tyrosine in PKU does not substitute the prescribed dietary formulas; the metabolic centre team sets the regimen and doses.