The First Treatment for PKU: The Pioneers-Birmingham 1951

Abstract

Prior to the introduction of newborn screening, Phenylketonuria (PKU) was a devastating disorder with affected individuals usually committed to a life in care in large institutions (asylums). Newborn screening only began after it was shown that those with PKU could be treated with a modified diet and could subsequently lead normal lives. The first production of a diet and the demonstration of its effectiveness was thus a key milestone in the history of both PKU and newborn screening, and took place in Birmingham, UK, in 1951. The pioneers were a two-year-old girl called Sheila Jones, her mother Mary, and three dedicated professionals at Birmingham Children's Hospital: Evelyn Hickmans, John Gerrard and Horst Bickel. Together, they changed the course of PKU for those across the world. This review summarises the history and achievements of this team who opened the door to PKU treatment and the introduction of newborn screening.

Keywords: Birmingham history; dietary treatment; phenylketonuria; screening.

Figure 1

Mary Jones (1917–1981) in 1971 (photograph reproduced with kind permission of the Jones family).

Figure 2

Birmingham Children’s Hospital circa 1950s.

Figure 3

Ward at Birmingham Children’s Hospital circa 1950.

Figure 4

Sheila’s home in Matlock Road (ground floor flat), Tyseley Birmingham 1949–1956 (photograph taken 2019).

Figure 5

The original glass column filled with charcoal used to prepare phenylalanine-free casein hydrolysate for Sheila’s diet.

Figure 6

Sheila reaching for Dr. Bickel’s keys, 1952 in Birmingham (photograph reproduced with kind permission of the Jones family).

Figure 7

Dr. Evelyn Hickmans with Professor John Gerrard (left) and Professor Horst Bickel (right) receiving the John Scott Award from Dr. W Greulich, Scientific attaché to the US Embassy in London: Birmingham 1962.