Jones, Holly and Strehle, Eugen-Matthias (2026) Nutritional and Therapeutic Strategies in Paediatric Phenylketonuria: A Narrative Literature Review. Nutrients, 18 (9): 1347. p. 1347. ISSN 2072-6643
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nutrients-18-01347-v2.pdf - Published Version
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Abstract
Abstract
Phenylketonuria (PKU) is an autosomal recessive disorder characterised by an inborn error of phenylalanine (Phe) metabolism. Such errors are attributed to pathogenic gene variants causing phenylalanine hydroxylase (PAH) deficiency, impairing the hydroxylation of phenylalanine to tyrosine in the Phe metabolic pathway. This defect leads to plasma Phe concentrations above the normal range. If untreated, hyperphenylalaninemia can adversely affect brain function, leading to severe intellectual disability and seizures. Since 1969, the newborn dried blood spot test has remained the main method of early screening and diagnosis for PKU. The primary therapeutic management is a lifelong phenylalanine-restricted diet with the aim of decreasing plasma Phe levels. The recommended diet consists of avoiding high-protein foods such as meat, fish, eggs and nuts, and can be supplemented with high-protein medical formulas which are low in phenylalanine. Pharmacological interventions such as sapropterin, sepiapterin and pegvaliase can also be used as treatment adjuncts in patients with PKU. Currently, small-molecule inhibitors reducing renal phenylalanine reabsorption are being explored as a potential therapeutic intervention. Furthermore, novel gene-editing techniques are under evaluation as potential curative strategies, with preclinical studies showing promising results in correcting pathogenic phenylalanine hydroxylase variants. This non-systematic review synthesises current literature on the management of PKU, with a focus on dietary interventions and recommendations.
| Item Type: | Article |
|---|---|
| Additional Information: | ** Article version: VoR ** From MDPI via Jisc Publications Router ** History: received 26-03-2026; rev-recd 20-04-2026; accepted 22-04-2026; epub 24-04-2026; collection 01-05-2026. ** Licence for VoR version of this article: https://creativecommons.org/licenses/by/4.0/ |
| Uncontrolled Keywords: | phenylketonuria, phenylalanine hydroxylase, adherence, diet, pegvaliase, sapropterin dihydrochloride |
| Related URLs: | |
| SWORD Depositor: | Publication Router |
| Depositing User: | Publication Router |
| URI: | https://sure.sunderland.ac.uk/id/eprint/20233 |
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