The Early History of PKU

Abstract

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.

Keywords: PKU; early treatment; phenylketonuria; screening.

Figure 1

Three fragments of the original patient notes on the first phenylketonuria (PKU) patient treated, Sheila Jones. (Editorial note: as the name of this famous patient and her history are universally known, anonymization of the patient’s name in the records was considered pointless in this case and therefore omitted). Photographs are provided by Mr. Adams. Mr. Adams confirmed with Dr. John Gerrard that these case notes were made by him, including the handwriting. Gerrard confirmed that he had shared the notes with Dr. Robert Koch, and Mr. Adams found the notes when Jean Koch, the widow of Dr. Robert Koch, offered him the opportunity to peruse his files.