Why does urine change color in Alkaptonuria?
In Alkaptonuria, a rare genetic disorder, the body lacks the enzyme responsible for breaking down certain amino acids, particularly tyrosine, and phenylalanine. As a consequence, homogentisic acid accumulates in the body instead of being properly metabolized. This excess homogentisic acid is excreted through the urine. Over time, upon exposure to air and oxidation, the accumulated homogentisic acid undergoes a chemical reaction, causing the urine to darken in color. Initially, the urine may appear normal, but upon standing or exposure to air, it gradually turns dark brown or black. This color change is a distinctive characteristic of Alkaptonuria and serves as a diagnostic clue for the condition. Monitoring urine color changes is crucial in diagnosing and managing Alkaptonuria, as it helps healthcare providers assess the severity of the disorder and adjust treatment accordingly. Nitisinone, a medication used in treating Alkaptonuria, works by reducing the production of homogentisic acid, thus helping to alleviate symptoms and prevent complications.