Alkaptonuria, a genetic disease described in depth with data support

Alkaptonuria is an autosomal recessive trait that affects many parts of a victim's body. The genetic disorder has been mapped to chromosome 3, which is where the abnormality occurs. As an autosomal recessive trait, the parents of someone with alkaptonuria show no signs of the disease, but rather carry the gene and have a chance of passing it on the offspring. Two carrier parents have a 25% chance that the child will inherit two normal genes and, …

…degeneration of the cartilage of the joints due to the accumulation of homogentisic acid in the cartilage. This results in osteoarthritis of joints throughout the body at an unusually early age. Typical joints affected include the spine, knees, hips, and shoulders. Joint symptoms include stiffness, pain, swelling, and limited motion. Although the symptoms seem dreadful, people who have been diagnosed with alkaptonuria go on to live very normal lives and have a normal life expectancy.