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...
Open access
Research Article
10.9734/IJMPCR/2016/22710