Management of Phenylketonuria and Dietary Interventions
Summary
Phenylketonuria (PKU) is a hereditary metabolic disorder caused by deficient activity of phenylalanine hydroxylase, leading to accumulation of the amino acid phenylalanine to neurotoxic levels. Early detection through newborn screening programmes permits prompt initiation of lifelong management focused principally on dietary restriction of phenylalanine supplemented by medical foods and, in selected cases, pharmacological cofactors. A carefully titrated low-phenylalanine diet provides adequate energy and nutrients while maintaining blood phenylalanine within target ranges to prevent cognitive impairment, behavioural disturbances and other complications. Advances in genotype-phenotype correlation have enabled tailored approaches, including responsiveness to tetrahydrobiopterin supplementation and, more recently, enzyme substitution therapy. Multidisciplinary teams comprising metabolic physicians, dietitians and psychologists collaborate to support adherence, adjust nutritional prescriptions through the life course and address quality-of-life considerations. Emerging strategies aim to refine dietary regimens, develop palatable protein substitutes and integrate novel therapeutics to reduce dietary burden and enhance metabolic control on a global scale.
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Management of Phenylketonuria and Dietary Interventions publication trend
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Technical terms
Phenylalanine hydroxylase (PAH): Enzyme that converts phenylalanine to tyrosine, deficient in PKU.
Tetrahydrobiopterin (BH4): A natural cofactor for PAH that can enhance residual enzyme activity in responsive patients.
Hyperphenylalaninaemia: Elevated blood levels of phenylalanine that can cause neurotoxicity if untreated.
Amino acid formula: Phenylalanine-free or low-phenylalanine protein substitute used to meet nutritional requirements.
Pegvaliase: A PEGylated phenylalanine ammonia lyase enzyme therapy that degrades excess phenylalanine.
References
- The Genetic Landscape and Epidemiology of Phenylketonuria. American Journal of Human Genetics (2020).
- PKU dietary handbook to accompany PKU guidelines. Orphanet Journal of Rare Diseases (2020).
- Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria. Genetics in Medicine (2018).
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