The diagnosis of AKU is made upon the identification of characteristic symptoms, patient history, and clinical evaluation. Identification of elevated levels of homogentisic acid (HGA) in the urine is indicative of AKU.
AKU should be suspected of all individuals with black urine, however, as some people will not present with black urine, it may be advisable to rule out the disorder for all individuals with osteoarthritis, especially those with an early onset of symptoms.
If you have been recently diagnosed, or need help receiving a diagnosis, please contact lesley@akusociety.org