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Phenylketonuria: modelling cerebral amino acid and neurotransmitter metabolism

2024-01-05

Abstract excerpt

<h4>Objective</h4> Phenylketonuria (PKU) is a metabolic disorder characterised by deficient hepatic phenylalanine hydroxylase activity, leading to elevated phenylalanine levels. Despite adherence to a phenylalanine-restricted diet, many adult PKU patients continue to experience executive function deficits, likely linked to high cerebral phenylalanine concentrations and deficiencies in monoaminergic neurotransmitt...

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Literature Corpus work
78d0bd3d-45f7-514b-95f9-0d8dd27a27a7
DOI
10.1101/2024.01.05.574352
Open publication

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