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Phenylketonuria (PKU) was described and defined biochemically for the first time in 1934 by Norwegian Ivar Asbjørn Følling. This disease is a hereditary autosomal recessive metabolic disorder caused by a mutation of the gene encoding phenylalanine hydroxylase that normally converts phenylalanine to tyrosine. In the 1960s, a screening test for hyperphenylalaninemia was developed by Guthrie. Due to population-based newborn screening (NBS), PKU became the first disease to be diagnosed at an early, presymptomatic stage. Tetrahydrobiopterin (BH4) is an essential cofactor for the activity of various enzymes, including phenylalanine hydroxylase. Moreover, a heterogeneous group of congenital disorders of BH4 metabolism was presented with (atypical PKU) or without hyperphenylalaninemia. In some patients with classical PKU, the intake of BH4 restores the ability to metabolize phenylalanine. Kaufman’s discovery of BH4 6 decades ago resulted in the opening of novel and productive avenues of biological and medical research.

Atypical phenylketonuria: Over 60 years from the discovery of tetrahydrobiopterin