Is Alkaptonuria Autosomal Dominant?

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.

Why is alkaptonuria autosomal?

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.

How is alkaptonuria passed on to the next generation?

This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.