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Alkaptonuria and intramedullary calcification.

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.
AuthorsS Raina, D M Mahesh, S S Kaushal, D Gupta, D S Dhiman, A Negi, S Sharma
JournalThe Journal of the Association of Physicians of India (J Assoc Physicians India) Vol. 56 Pg. 552-5 (Jul 2008) ISSN: 0004-5772 [Print] India
PMID18846913 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Homogentisate 1,2-Dioxygenase
  • Homogentisic Acid
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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