Alkaptonuria

/ˌælkæptəˈnjʊəriə/ noun

Definition

A rare inherited metabolic disorder where the body cannot break down certain amino acids, causing dark urine and progressive joint problems.

Etymology

From alkapton (the dark pigment) + -uria (Greek for 'in the urine'). The term was formalized in the 1850s when physicians recognized this as a distinct disease with familial inheritance patterns.

Kelly Says

Alkaptonuria was the first human disease definitively linked to recessive inheritance in 1902—Archibald Garrod used this rare condition to prove that genes control biochemistry, launching the field of genetic medicine.

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