OCHRONOSIS- A CASE REPORT

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Alkaptonuric ochronosis: a case report.

Alkaptonuric ochronosis is a rare autosomal recessive metabolic disorder resulting in a deficiency of homogentisic acid oxidase (alkaptonuria). Ultimately, this enzyme deficiency enables homogentisic acid to accumulate, become polymerized, and be systemically deposited within various tissues of the body (ochronosis). As the disease progresses, tissue deposition of polymerized homogentisic acid ...

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Alkaptonuria is a rare metabolic disorder characterized by a deficiency of the homogentisic acid oxidase enzyme. The result is accumulation of homogentisic acid in collagenous structures throughout the body, especially in fibrous and cartilaginous tissue. This leads to gradual development of a phenomenon known as ochronosis. Characteristic features of ochronosis are urine darkening, progressive...

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ژورنال

عنوان ژورنال: Journal of Evolution of Medical and Dental Sciences

سال: 2018

ISSN: 2278-4748,2278-4802

DOI: 10.14260/jemds/2018/614