Abstract |
Alkaptonuria is a rare disorder of metabolism caused by deficiency of homogentisic acid oxidase enzyme and characterized by triad of homogentisic aciduria (dark urine), relentlessly progressive arthritis and ochronosis. We have documented a case with typical features of alkaptonuria along with intramedullary calcification which has not been reported in the literature before.
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Authors | S Raina, D M Mahesh, S S Kaushal, D Gupta, D S Dhiman, A Negi, S Sharma |
Journal | The Journal of the Association of Physicians of India
(J Assoc Physicians India)
Vol. 56
Pg. 552-5
(Jul 2008)
ISSN: 0004-5772 [Print] India |
PMID | 18846913
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Homogentisate 1,2-Dioxygenase
- Homogentisic Acid
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Topics |
- Alkaptonuria
(diagnosis, etiology, physiopathology)
- Calcinosis
(diagnosis, physiopathology)
- Disease Progression
- Homogentisate 1,2-Dioxygenase
- Homogentisic Acid
- Humans
- Male
- Middle Aged
- Ochronosis
(physiopathology)
- Risk Factors
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