Garrod, Archibald E.

Garrod, Archibald E.

(1857–1936) English hospital physician who between 1900 and 1910 described the first demonstrable case of a human disease that is inherited according to the laws of MENDELIAN GENETICS. The condition is alkaptonuria, which is controlled by a single autosomal recessive gene. Garrod proposed that the enzyme that catalyses the breakdown of homogentisic acid to acetoacetic acid is nonfunctional in alkaptonurics. This results in a build-up of the acid in the urine, which turns black on exposure to air, and is readily observed in infant's nappies. It was not however, until 1958 that the absence of a functional homogentisic-acid oxidase enzyme was demonstrated in the liver of a patient with alkaptonuria. Garrod went on to explain several other human conditions such as ALBINISM as INBORN ERRORS OF METABOLISM.