alkaptonuria

Pathology

• black ochronotic pigmentation of cartilage & collagenous tissues
• arthritis of spine

Genetics

• mutation in gene for homogentisate 1,2-dioxygenase

Laboratory

• urine that turns dark on standing & alkalinization
• alkaptonuria results from homogentisic acid in the urine
• HGD gene mutation

Management

• relatively benign condition

More general terms

• cartilage disease

Additional terms

• homogentisate
• homogentisate 1,2-dioxygenase (homogentisicase, homogentisate oxygenase, homogentisic acid oxidase)

Database

• OMIM: https://mirror.omim.org/entry/203500