Pathway

Phenylketonuria

Phenylalanine hydroxylase (PAH) normally catalyzes the conversion of phenylalanine to tyrosine. In the absence of functional PAH, phenylalanine accumulates to high levels in the blood and is converted to phenylpyruvate and phenyllactate. The extent of these conversions is modulated by genetic factors distinct from PAH, as siblings with the identical PAH defect can produce different amounts of them.

Both L-amino acid oxidase and Kynurenine--oxoglutarate transaminase 3 can catalyze the conversion of phenylalanine to phenylpyruvate and lactate dehydrogenase can catalyze the conversion of the latter molecule to phenyllactate, in reactions not annotated here.

Summary from Reactome (R-HSA-2160456), read 2026-09-23.

REACT:R-HSA-2160456Reactome

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What the reference databases state

Statements

1 statement

1 statement · 1 reference database · Subject: Phenylketonuria · Sources: Reactome

Order

PAH participates in PhenylketonuriaProteinReactome R-HSA-2160456Inferred only