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.

单词	garrod, archibald e.
释义	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.
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