THE influence of genetic make-up on the occurrence of human disease has been familiar to physicians from earliest times. Knowledge regarding the manner in which such influences operate has been available only more recently. The concept of "inborn errors of metabolism" was introduced by Sir Archibald Garrod in 1908.1 He dealt with four specific metabolic disorders—albinism, alkaptonuria, cystinuria, and pentosuria.
His uncanny prediction that products excreted in these diseases were in reality normal metabolites which accumulated because of deficiency of enzymes responsible for further metabolism has been amply confirmed in recent years. The few diseases studied by Garrod were long considered medical rarities of esoteric interest. With the unraveling of the mysteries of intermediary metabolism, these diseases assumed new importance and have indeed aided in the comprehension of metabolic pathways. The excretion of homogentisic acid in alkaptonuria and 1-xylulose in pentosuria were of immeasurable help in delineating the metabolism
INBORN ERRORS OF METABOLISM. JAMA. 1959;170(15):1814. doi:10.1001/jama.1959.03010150058014
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