Editing Alkaptonuria (section)

==Diagnosis==
[[File:Alkaptonuria.jpg|thumb|right|Urine of a 4-month-old baby with dark urine (on the left) after 10% ammonia and 3% silver nitrate were added. The tube in the middle is a normal control. Color change on alkalinization is not a specific test, and confirmatory investigations are needed.<ref name=Ranganath/>]]

If the diagnosis of alkaptonuria is suspected, it can be confirmed or excluded by collecting urine for 24 hours and determining the amount of homogentisic acid by means of [[chromatography]]. No assay of HGA in blood has been validated.<ref name=Ranganath/> The Genetic Testing Registry  is used for maintaining information about the genetic test for alkaptonuria.<ref>{{cite web|author=Anonymous | url=https://rarediseases.info.nih.gov/diseases/5775/alkaptonuria|date=18 March 2016| access-date=17 April 2018 | title=Alkaptonuria}}</ref>

The severity of the symptoms and response to treatment can be quantified through a validated questionnaire titled the AKU Severity Score Index. This  assigns scores to the presence of particular symptoms and features, such as the presence of eye and skin pigmentation, joint pain, heart problems, and organ stones.<ref name=Ranganath/>