BPhenylketonuria
Adjunct
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. The 2017 European PKU guidelines (van Wegberg et al.) include tyrosine in replacement therapy. A Cochrane systematic review found no significant benefit of separate L-tyrosine supplementation beyond the diet on neuropsychological outcomes. Self-administered L-tyrosine in PKU does not substitute the prescribed dietary formulas; the metabolic centre team sets the regimen and doses.
Sources
- European PKU guidelines (van Wegberg et al.): Key European guidelines for the diagnosis and management of patients with phenylketonuria (2017)
- Cochrane Database of Systematic Reviews: Tyrosine supplementation for phenylketonuria (2021)
- Orphanet Journal of Rare Diseases: The complete European guidelines on phenylketonuria: diagnosis and treatment (2017)
ICD-10: E70.0 · ICD-11: 5C50.0