alcaptonuria

Meaning

A rare inherited metabolic disorder characterized by the inability to break down the amino acids tyrosine and phenylalanine, leading to the accumulation of homogentisic acid in the body.

Examples

• Patients with alcaptonuria often develop dark spots on their skin and sclera as they age.
• The diagnostic hallmark of alcaptonuria is urine that darkens significantly after standing for several hours.