Abstract:Alkaptonuria (AKU) is a rare metabolic disorder resulting from deficiency of homogentisic acid (HGA) oxidase involved in the metabolism of tyrosine. Dark discolouration of urine, ochronosis at cartilage and connective tissues, arthritis at the third of fourth decade of life, cardiac valve deficits, renal stone disease, spontaneous tendon rupture, and liver involvement may be seen in alkaptonuria. It was reported that HGA oxidase gene was expressed in human cerebral tissue and neuronal cells in AKU with multi-s… Show more
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