Description
Alkaptonuria is a disease of the Body.
The urine turns black when it comes in contact with the air.
It is a genetic disorder.
There is an enzyme known as homogentisate oxidase. It is regulated by the HGD gene. Normally, this enzyme breaks down the amino acids that help to build up protein. These amino acids are Tyrosine and Phenylalanine. Any defect in this gene interrupts the normal functioning of the enzyme. It is not able to break the amino acids as a result, homogentisic acid deposits in the connective tissues. If the acid builds up in the joints, it causes Arthritis and Kidney Problems. When the acid dissolves in the Blood, it mixes with urine and leaves the Body.
Causes of Alkaptonuria
Gene Mutation
If not treated properly, Alkaptonuria may cause
Kidney Stones
Heart Problems
Coronary Artery Disease
Prostrate Stones in Men