International Journal of Neonatal Screening (Jul 2020)

The Early History of PKU

  • Louis I. Woolf,
  • John Adams

DOI
https://doi.org/10.3390/ijns6030059
Journal volume & issue
Vol. 6, no. 3
p. 59

Abstract

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The story of phenylketonuria (PKU) started in 1934 with Asbjørn Følling’s examination of two mentally retarded siblings from a Norwegian family. However, if their mother had not been so persistent in her search for somebody who could give her a reason why both her children were retarded, Asbjørn Følling’s name might never have been associated with PKU and surely the history of PKU would have started differently. In the short review below, the authors give a partly personal and therefore rare account of the early history of PKU, its treatment and the start of neonatal screening. Prof. Woolf is a pioneer of both the dietary treatment of PKU and neonatal screening; Mr. Adams is a long-time advocate for PKU patient interests.

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