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.
Mallmann, R, Güttler, F, Henriksen, KF, Guldberg, P
Scriver, CR, Trakadis, YJ, Mitchell, JJ
phenylalanine 4-monooxygenase activity of PAH S40L:Fe2+ tetramer [cytosol]
Loss of function of PAH S40L:Fe2+ tetramer [cytosol]
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