engleski

Common symptoms of an uncommon disease, alkaptonurik ochronosis - case report

Alkaptonuria is a rare disorder of metabolism characterized by deficiency of an enzime. The result is accumulation of homogentisic acid in collagenous structures. This leads to the characteristic features like darkening of urine, progressive scleral pigmentation, subcutaneous cartilage pigmentation and arthropathy.

Alkaptonuria; Ochronosis; Pigmented sclera; dark urine

nije evidentirano