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Garrod, Sir Archibald Edward

genetics metabolic disorders mendelian

(1857–1936) British physician: discovered nature of congenital metabolic disorders.

While studying four human disorders (alcaptonuria, albinism, cystinuria and pentosuria) Garrod discovered that in each case a chemical substance derived from the diet was not being completely metabolized by the body, with the result that a product that is normally only an intermediate was excreted in the urine. He deduced that this metabolic failure was due to the absence of an enzyme (in 1958 this was proved to be correct). The family histories of patients also showed that the disorders were not due to infection or some random malfunction but were inherited on a Mendelian recessive pattern. Garrod’s results thus showed that Mendelian genetics applied to man and were the first to suggest a connection between an altered gene (mutation) and a block in a metabolic pathway. This major concept, the biochemical basis of genetics, was surprisingly ignored (as original work on genetics had been) for 30 years.

Garrod’s daughter Dorothy, an archaeologist, was the first woman to hold a Cambridge professorship.

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