منابع مشابه
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 ...
متن کاملUnrecognized ochronosis--a case report.
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...
متن کاملOchronosis of hip joint; a case report
BACKGROUND Ochronosis is connective tissue manifestation of Alkaptonuria. Joint involvement specially hip and knee destruction is seen. The cartilage is pigmented and destroyed. It is interested for both pathologists and orthopedic surgeons. CASE PRESENTATION A 54 years old woman with hip fracture after simple falling is candidate for surgery, but, after skin and subcutaneous incision over de...
متن کاملKnee osteoarthrosis secondary to ochronosis – clinical case☆☆☆
Alkaptonuria is a rare metabolic disease in which a deficiency of the enzyme homogentisate dioxygenase causes an accumulation of homogentisic acid. Ochronosis consists of excessive deposition of homogentisic acid in the connective tissue and presents as a chestnut brown or black pigmentation. With aging, the accumulation of pigments from homogentisic acid in the joints causes osteoarthrosis. Th...
متن کاملOchronosis - The Role of Total Hip Replacement : A Case Report and Review of Literature
Alkaptonuria is a rare autosomal recessive, single-gene metabolic disease caused by the lack of the enzyme homogentisic acid oxidase and characterized by black pigmentation of cartilage and other connective tissues. 38 yr old male was admitted to the orthopedics ward with bilateral hip pain for the past 3 years and inability to walk for the past 1yr. He had also complained of brownish-black dis...
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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