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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.
People with untreated classic PKU have levels of phenylalanine high enough to cause severe brain damage and other serious medical problems. Mutations in the PAH gene that allow the enzyme to retain some activity result in milder versions of this condition, such as variant PKU or non-PKU hyperphenylalaninemia.henylketonuria-caused by mutations in the PAH gene. More than 500 mutations in the PAH gene have been identified in people with phenylketonuria (PKU). Most of these mutations change single amino acids in phenylalanine hydroxylase.