Synonyms:AKU, alcaptonuria; homogentisic acid oxidase deficiency; ochronosis
This is an autosomal recessive condition of homogentisic acid oxidase deficiency, resulting from a set of inherited alleles on chromosome 3 (3q21-q23). A whole spectrum of mutations has been identified.12 It was first described by Garrod in 1902 and was one of the first clinical descriptions to be identified as autosomal recessive.3 It has also been diagnosed in the mummy of Harwa dating from 1500 BC.4
This is a companion discussion topic for the original article at https://patient.info/doctor/congenital-disorders/alkaptonuria.htm