Alkaptonuria is a rare inherited metabolic disorder which affects a person's ability to break down certain substances in the body. It is caused by a lack of an enzyme called homogentisic acid oxidase and is characterized by the excretion of abnormally high levels of homogentisic acid in the urine.
The excess homogentisic acid is excreted in the form of black or dark brown pigment that can be seen in the urine when it is exposed to air. This pigment, known as alkapton, is responsible for the discoloration and can sometimes lead to the discoloration of other body tissues, such as skin and cartilage.
The primary symptom of alkaptonuria is the excretion of excess homogentisic acid in the urine. This can lead to a range of other symptoms, including joint pain, arthritis, and darkening of the skin and cartilage. Other symptoms include fatigue, abdominal pain, and a loss of appetite.
In addition to excreting excess homogentisic acid in the urine, people with alkaptonuria may also have abnormally high levels of certain amino acids in their blood. This can lead to kidney stones, as well as an increased risk of developing certain types of cancer.
Treatment for alkaptonuria typically involves dietary changes and the use of medications to help reduce the amount of homogentisic acid in the body. In some cases, surgery may be necessary to correct the underlying enzyme deficiency.