How Is Alkaptonuria Transmitted?

Alkaptonuria is inherited, which means it is passed down through families. If both parents carry a nonworking copy of the gene related to this condition, each of their children has a 25% (1 in 4) chance of developing the disease.

Why is alkaptonuria a recessive disease?

Alkaptonuria is a rare autosomal recessive disorder that is due to a mutation in the homogentisate 1,2 dioxygenase (HGD) gene, resulting in abnormalities of tyrosine catabolism and tissue deposition of homogentisic acid.

Is alkaptonuria an autosomal recessive disease?

Alkaptonuria is inherited as an autosomal recessive trait. Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent.