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.