Is Alkaptonuria Dominant or Recessive?

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 recessive?

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.

What is the alkaptonuria?

Alkaptonuria, or "black urine disease", is a very rare inherited disorder that prevents the body fully breaking down two protein building blocks (amino acids) called tyrosine and phenylalanine. It results in a build-up of a chemical called homogentisic acid in the body.