Alcaptonuria

/ælkæptəˈnjʊəriə/ noun

Definition

A rare genetic disorder where the body cannot properly break down certain amino acids, causing dark urine and joint and heart problems later in life.

Etymology

From 'alkapton' (an oxidized acid product) plus the medical suffix '-uria' meaning 'condition of the urine.' The 'alkapton' part comes from the dark pigment found in affected patients' urine.

Kelly Says

Alcaptonuria was one of the first genetic disorders Mendel studied through family patterns—watching dark urine in grandfather, father, and child proved that traits follow mathematical rules, not random chance.

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