In 1902, a British physician, Archibald Garrod, was working with one of the Mendelian geneticists, when he noted that certain diseases he encountered among his patients seemed to be more preponderating in particular families. By examining several generations of these families, he put that some of the diseases behaved as if they were the product of simple recessive alleles. Garrod reason that these dis identifys were Mendelian traits and that they had resulted from changes in the heredity information in an theme of the affected families.
        Garrod investigated this ordeal in greater detail. In alcaptonuria the patients produced urine that contained mogentisic acid (alkapton). This substance oxidized rapidly when clear to air, turning the urine black.
In normal individuals, homogentisic acid is down in the mouth down into simpler substances. Garrod concluded that patients suffering from alkaptonuria lacked the enzyme necessary to change state this breakdown. He speculated that many other inherited diseases might excessively reflect enzyme deficiencies.
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