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. If the diagnosis of<unk>  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. The Genetic Testing Registry is used for maintaining information about the genetic test for<unk> . The severity of the symptoms and response to treatment can be quantified through a validated questionnaire titled the<unk>  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.
Alkaptonuria
Hawkinsinuria
Orotic aciduria
Cystathioninuria
Aspartylglucosaminuria
Homocystinuria
Urocanic aciduria
Glycosuria