Alkaptonuria and intramedullary calcification.
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.
Raina
S
S
Department of Medicine, Indira Gandhi Medical College, Shimla.
Mahesh
D M
DM
Kaushal
S S
SS
Gupta
D
D
Dhiman
D S
DS
Negi
A
A
Sharma
S
S
D000474:Alkaptonuria / Q000175:diagnosis* / Q000209:etiology / Q000503:physiopathology; D002114:Calcinosis / Q000175:diagnosis* / Q000503:physiopathology; D018450:Disease Progression; D050560:Homogentisate 1,2-Dioxygenase; D006713:Homogentisic Acid; D006801:Humans; D008297:Male; D008875:Middle Aged; D009794:Ochronosis / Q000503:physiopathology*; D012307:Risk Factors
D050560:Homogentisate 1,2-Dioxygenase; D006713:Homogentisic Acid