The birth of Paediatrics: the discovery of alcaptonuria
Anna Piro, Giuseppe Tagarelli, Paolo Lagonia, Manuela Caracciolo, Antonio Tagarelli
National Research Council of Italy, Institute of Neurological Sciences, Mangone (Cosenza), Italy
The authors show the discovery of alcaptonuria by Archibald Edward Garrod (1857-1936), Fellow of the Royal College of Surgeons of England in 1884, recognizing him as “father of biochemistry”, titled deserved to Garrod and Justus Liebig by Gowland Hopkins, President of the Royal Society, in 1932 (1, 3). Moreover, Garrod gave Paediatrics to the physicians attending to the children’s health by his discovery. He studied the biochemical principle and the hereditary transmission (also without any knowledge of mendelian genetics) of alcaptonuria, and classed it as “inborn errors of metabolism” (2). Garrod confirms that the inborn errors of metabolism are not congenital diseases (2). The last, he said, are “… structural abnormalities … present at birth which owe their origin to intra uterine disease or intra uterine injury and are in no sense developmental errors …”; instead, the inborn errors of metabolism are true developmental errors. Garrod said: “… in the case of each of them the most probable cause is the congenital lack of some particular enzyme, in the absence of which a step is missed, and some normal metabolic change fails to be brought about …” (2).
1. Bearn AG. Archibald Edward Garrod and the individuality of men. Oxford: Oxford University Press, 1993: 43, 142.
2. Garrod AE. Inborn errors of metabolism. 2nd ed. Oxford: Oxford University Press, 1923: 10, 11, 43, 51, 59, 60, 61.
3. Hopkins FG. Achibald Edward Garrod, 1857-1936. Obituary Notices of Fellows of the Royal Society 1938; 2: 224-228.