Alkaptonuria is a rare metabolic disorder characterized by an inability to fully break down certain phenylalanine and tyrosine byproducts, leading to dark urine and potential joint and connective tissue complications. It results from a deficiency of the enzyme homogentisate oxidase, causing accumulation of homogentisic acid. The term combines alkapton (a dark pigment) and uria (urine) with the -uria suffix.
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