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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
Related
homogentisate
homogentisate 1,2-dioxygenase (homogentisicase, homogentisate oxygenase, homogentisic acid oxidase)
General
cartilage disease
Database Correlations
OMIM 203500
References
- Stedman's Medical Dictionary 26th ed, Williams &
Wilkins, Baltimore, 1995
- OMIM :accession 203500