A Case Report of Ochronotic Arthropathy

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Alkaputonuria is an uncommon metabolic disorder caused by deficiency of the enzym Homogentisic Acid (H, G. A, ) oxidase. So Tyrosine and Phenylalanine are not metabolized completely. H. G. A. is produced, but metabolism dose not advance furthermore. H. G. A. is excreted in the urine and the deposition of H. G. A. in the cartilage and other tissue, produces the clinical picture of Ochronosis. Ochronotic arthritis is characterized by the loss of motion and pain of the spine and large joints (hips, knees, shoulders, and elbows) We have experienced a case of ochronotic arthropathy. The patient complained left coxalgia and gonalgia. The radiographic appearance of spines showed wafers-like calcification, narrowing of intervertebral discs and so called bamboo spine. That of left hip and bilateral knees showed O·A like changes. The urine changed to dark on exposure to the air. Left hip was treated with endoprosthesis. The resected femoral head was black. Pigmentation in the fibrocartilage of the femoral head was obserbed with microscope. We have comfirmed H. G. A. in the urine with chromatography.
西日本整形・災害外科学会の論文