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Phenylalanine has been around as long as life itself, if not longer. It's not something that someone invented one day. It's like oxygen: no one invented it, it's been here as long as anyone can remember, and far longer! J. Heinrich Matthaei and Marshall W. Nirenberg figured out a way to make a bacterium produce long chains of phenylalanine molecules in 1961.
Classical PKU, and its less severe forms mild PKU and mild hyperphenylalaninemia are caused by a mutated gene for the enzyme phenylalanine hydroxylase (PAH), which converts the amino acid phenylalanine (Phe) to other essential compounds in the body, in particular tyrosine.KU is an inherited disease. When an infant is diagnosed with PKU, it is never the result of any action of the parents or any environmental factor. Rather, for a child to inherit PKU, both of his or her parents must have at least one mutated allele of the PAH gene.