Phenylketonuria (PKU): phenylalanine lowering treatment
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Phenylketonuria (PKU): phenylalanine lowering treatment. The target is to maintain phenylalanine blood levels <360 μmol/L.
Low phenylalanine diet
- The target is to maintain phenylalanine blood levels <360 μmol/L
Sapropterin dihydrochloride
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Pegvaliase
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References
- Burton BK, Hermida Á, Bélanger-Quintana A, et al. Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach. Mol Genet Metab 2022; 137:114-126.
- Burlina A, Biasucci G, Carbone MT, et al. Italian national consensus statement on management and pharmacological treatment of phenylketonuria. Orphanet J Rare Dis 2021; 16:476.
- Vernon HJ, Koerner CB, Johnson MR, Bergner A, Hamosh A. Introduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuria. Mol Genet Metab 2010; 100:229-233.
- Muntau AC, Burlina A, Eyskens F, et al. Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial. Orphanet J Rare Dis 2021; 16:341.
- Muntau AC, Adams DJ, Bélanger-Quintana A, et al. International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria. Mol Genet Metab 2019; 127:1-11.
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