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Nutritional and Therapeutic Strategies in Paediatric Phenylketonuria: A Narrative Literature Review

2026-03-30

Abstract excerpt

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, hyperphenylal...

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Literature Corpus work
c2553ec3-6790-5f36-b80f-63ac001102f6
DOI
10.20944/preprints202603.2280.v1
Open publication

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