Nayyereh Saadati

A Case of Alkaptonuria Diagnosed in Late Adulthood

Nayyereh Saadati, Mandana Khodashahi & Bahram Naghibzadeh · International Journal of Medical and Pharmaceutical Case Reports · 2016

Background: Alkaptonuria (AKU), also known as black urine disease, ochronosis as well,  is a rare Mendelian autosomal recessive disorder,  located on chromosome 3q21-q23, caused by deficiency of the homogentisate 1,2 dioxygenase (HGO), an enzyme which normally catalyses the conve...