SNP Shot: Genomic Insights

Alkaptonuria is a genetic disease where urine darkens to black upon air exposure. A key feature is ochronosis, the accumulation of dark pigment in connective tissues like cartilage and skin. This blue-black discoloration generally manifests after age 30. Individuals with alkaptonuria commonly experience arthritis, especially affecting the spine and major joints, starting in early adulthood. Additional complications may involve heart issues, kidney stones, and prostate stones.

Inheritance:

The inheritance pattern of this condition is autosomal recessive. This means that both copies of the responsible gene within each cell must have mutations for the condition to develop. Individuals with an autosomal recessive disorder inherit one copy of the mutated gene from each parent, who are typically carriers and do not exhibit symptoms of the condition.