Abstract
Alkaptonuria is very rare disease characterised by the presence of homogentisic acid in the urine, associated with an inborn error of metabolism of certain amino acids, namely tyrosine and phenylalanine. The disease is inherited.We experienced a 48 years old woman who complained of low back pack pain and, feeling of numbness and pain of the lateral aspect of right leg, and who was supposed to be an alkaptouria from her clinical histories.First clinical manifestations were ochronosis both in the auricles and sclerae, slight kyphosis and stiffness of the thoracolumbar spine.Radiological examination showed degenerative changes of thracolumbar spine and right knee joint, and demonstrated narrowing of the intervertebral spaces and diffuse calicification of intervertebral discs.Except for anemia, CRP positive and decrease of potassium in the serum, there is no clinical significance in the blood examination. On standing, the urine turned brown and finally black in color.Treatments, such as traction, hydrotherapy, medication, were done without appreciable therapeutic effects.
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