Alkaptonuria – Case Report and Review of Literature
نویسندگان
چکیده
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 turns dark on standing and on alkalization due to elimination of excessive amounts of homogentisic acid (HGA), blue-black pigmentation of connective tissues and cartilages and arthritis of weight bearing joints.3
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