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Alkaptonuria and intramedullary calcification.
Raina, S; Mahesh, D M; Kaushal, S S; Gupta, D; Dhiman, D S; Negi, A; Sharma, S.
Article in English | IMSEAR | ID: sea-89291
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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Full text: Available Index: IMSEAR (South-East Asia) Main subject: Humans / Male / Calcinosis / Risk Factors / Disease Progression / Alkaptonuria / Homogentisate 1,2-Dioxygenase / Homogentisic Acid / Middle Aged / Ochronosis Type of study: Etiology study / Risk factors Language: English Year: 2008 Type: Article

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Full text: Available Index: IMSEAR (South-East Asia) Main subject: Humans / Male / Calcinosis / Risk Factors / Disease Progression / Alkaptonuria / Homogentisate 1,2-Dioxygenase / Homogentisic Acid / Middle Aged / Ochronosis Type of study: Etiology study / Risk factors Language: English Year: 2008 Type: Article