Alkaptonuria is an inherited disorder caused by a deficiency in the enzyme homogentisic acid oxidase, which leads to the accumulation of homogentisic acid in the body. The excess homogentisic acid is excreted in the urine, giving it a dark, blackish color. This condition is also known as ochronosis.
In some cases, the excretion of homogentisic acid can cause damage to the joints and heart valves, leading to arthritis and heart valve disease. Other symptoms may include dark patches on the skin, eye problems, and kidney stones.
Treatment for alkaptonuria includes a low-protein diet, as well as medications to reduce the amount of homogentisic acid in the body. Lifestyle changes such as increasing physical activity and avoiding certain foods may also be necessary. In some cases, surgery may be necessary to remove damaged tissue.
Homogentisic acid is the metabolic excreted in alkaptonuria. It is a naturally occurring compound found in many foods, including some fruits, vegetables, legumes, and grains. It is also produced by the body in small amounts. When the body is unable to properly break down homogentisic acid, it accumulates in the body and is excreted in the urine.