Who first diagnosed alkaptonuria?

FAQ

Alkaptonuria was first described and diagnosed by Sir Archibald Edward Garrod, an English physician and biochemist, in 1902. He conducted extensive research on the disorder and published his findings in a paper titled “The Incidence of Alkaptonuria: A Study in Chemical Individuality.” Garrod recognized alkaptonuria as the first example of an inborn error of metabolism, a term he coined to describe genetic disorders caused by abnormalities in biochemical pathways. His work on alkaptonuria laid the foundation for the field of human biochemical genetics.

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