Search tips
Search criteria 


Logo of bmjThis ArticleThe BMJ
BMJ. 2007 September 29; 335(7621): 675.
PMCID: PMC1995473

Nina Agnes Jane Carson

After graduation, Nina Carson became a trainee pathologist. An appointment in the laboratory of the Royal Belfast Hospital for Sick Children evolved into a research opportunity in the Department of Child Health, Queen's University, where Nina worked until retirement in 1983.

In 1963 Nina graduated doctor of medicine from studies examining urine for metabolic abnormalities in over 2000 children and adults with mental disability. While identifying a high prevalence of undiagnosed phenylketonuria (PKU), Nina described the clinical and urinary amino acid chromatograph abnormalities in two siblings with an unknown disease. With the assistance of Professor C E Dent in University Hospital Medical School, London, the new disease of homocystinuria was characterised biochemically. Her clinical and laboratory work over the following 20 years contributed to the understanding of homocystinuria and its treatment.

Late diagnosis failed to improve mental disability so Nina took a leading role in promoting routine neonatal screening to identify infants with metabolic disorders and initiate treatment before clinical presentation. Urine screening for PKU started in Northern Ireland in 1960. Nina's adaptation of the original ferric chloride test described by Folling improved its reliability. The inevitable increase in patient numbers required the establishment of a clinic for inborn errors of metabolism in 1965. The clinic grew to be the third largest in the United Kingdom owing to the high prevalence of PKU in the Irish population. In the late 1960s Nina played a pivotal role in implementing newborn blood (Guthrie) screening. Through her membership of the Medical Research Council Steering Committee for Phenylketonuria, Nina made a significant contribution to the clinical, psychological, and biochemical follow up of children with PKU, ensuring an improved outcome for future patients. Because of the clear clinical benefit of early diagnosis, Nina assisted with the development of routine screening for congenital hypothyroidism in1980.

Outside work, Nina was an accomplished sports woman. She was the national Irish backstroke champion for many years and one of the first women to be elected into the Irish Swimming Hall of Fame. In 1947 she married Jim and together they formed a formidable sailing team, winning Ulster and Irish championships. It was at the age of 60 that she took up the less demanding sports of skiing and golf.

Nina made a unique contribution to paediatric medicine and achieved an acclaimed international reputation. She leaves a husband, Jim; three children; eight grandchildren; and two great-grandchildren.


Former senior lecturer in child health Queen's University, Belfast, and discoverer of homocystinuria (b 1923; q Queen's University, Belfast, 1946; DM, FRCP), died from complications of cerebrovascular disease on 3 June 2007.

Articles from The BMJ are provided here courtesy of BMJ Group