PAH
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Wikipedia on PAH (Less technical, ? quality control)
The PAH gene at 12q23.2 codes for the 452 amino acid enzyme phenylalanine-4-hydroxylase. Marked deficiency in phenylalanine-4-hydroxylase causes about 98% of phenylketonuria by failure of the reaction requiring ferrous ion as a cofactor:
L-phenylalanine + tetrahydrobiopterin + O2 -> L-tyrosine + 4a-hydroxytetrahydrobiopterin
Milder forms of hyperphenylalaninaemia where enzyme activity is greater than 20% of normal are known from variations in PAH.
