Alkaptonuria is an autosomal recessive disorder caused by the deficiency of homogentisate 1.2 dioxygenase activity. The clinical presentation shows an ochronotic pigment which is deposited in all connective tissues, including in cartilage, particularly. The knee is the most common site of peripheral abnormality. There is currently no definitive cure for alkaptonuric ochronosis. In this article,...

Alkaptonuria is a rare inborn error of metabolism, identified over a century ago. But its basic pathomechanism (i.e. ochronosis) is still not completely explained. Though clinical onset of osteoarthropathy and complications from other organs (including: heart and blood vessels, skin, eyes, kidneys) occurs at adult age, the symptoms are progressive, cause severe pains and significantly limit eve...

ALKAPTONURIA (AKU) is a rare inherited genetic disorder of tyrosine metabolism characterized by the triad of homogentisicaciduria, ochronosis and arthritis. It is one of the conditions in which Mandelian recessive inheritance was proposed.1 It was also one of the four inborn errors of metabolism described by Garrod in his croonian lectures of 1908.2 The clinical manifestations are that urine tu...