Inactivating mutations of cytosolic phenylalanine hydroxylase (PAH) block the normal reaction of phenylalanine, molecular oxygen and tetrahydrobiopterin to form tyrosine, water, and 4 alpha-hydroxytetrahydrobiopterin. Excess phenylalanine accumulates as a result, driving the formation of abnormally high levels of phenylpyruvate, and phenyllactate (Guldberg et al. 1996; Mitchell et al. 2011) in reactions not annotated here.
Fusetti, F, Erlandsen, H, Flatmark, T, Stevens, RC
Mallmann, R, Güttler, F, Henriksen, KF, Guldberg, P
Beaudet, AL, Scriver, CR, Sly, WS, Valle, D
phenylalanine 4-monooxygenase activity of PAH:Fe2+ tetramer [cytosol]
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