The First Treatment for PKU: The Pioneers—Birmingham 1951
Open Access
- 20 March 2021
- journal article
- review article
- Published by MDPI AG in International Journal of Neonatal Screening
- Vol. 7 (1), 19
- https://doi.org/10.3390/ijns7010019
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
This publication has 31 references indexed in Scilit:
- Ivar Asbjörn FøllingLaboratory Medicine, 2010
- Sir Leonard Parsons of Birmingham (1879-1950) and antenatal paediatricsArchives of Disease in Childhood: Fetal & Neonatal, 2002
- Mass screening of the newborn for metabolic disease.Archives of Disease in Childhood, 1968
- The Dietary Treatment of PhenylketonuriaArchives of Disease in Childhood, 1958
- Phenylalanine-restricted Diets in the Treatment of PhenylketonuriaArchives of Disease in Childhood, 1956
- Preliminary CommunicationThe Lancet, 1953
- Phenylketonuria with a Study of the Effect upon it of Glutamic AcidArchives of Disease in Childhood, 1951
- PHENYLKETONURIA: DATA ON FORTY‐SEVEN BRITISH FAMILIESAnnals of Eugenics, 1947
- PHENYLKETONURIA A PROBLEM IN EUGENICSThe Lancet, 1946
- Über die quantitative Trennung neutraler Aminosäuren durch ChromatographieBerichte der deutschen chemischen Gesellschaft (A and B Series), 1943