The gene defect makes the body unable to properly break down certain amino acids (tyrosine and phenylalanine). As a result, a substance called homogentisic acid builds up in the skin and other body tissues. The acid leaves the body through the urine. The urine turns brownish-black when it mixes with air.
Alkaptonuria is inherited, which means it is passed down from parents to their children. If both parents carry the defective gene related to this condition, each of their children has a 25% chance of developing the disease.
Urine in an infant's diaper may darken and can turn almost black after several hours. However, many persons with this condition may not know they have it until mid-adulthood (around age 40), when joint and other problems occur.
Symptoms may include:
Arthritis (especially of the spine) that gets worse over time
Darkening of the ear
Dark spots on the white of the eye (sclera) and cornea
Exams and Tests
A urine test (urinalysis) is done to test for alkaptonuria. If ferric chloride is added to the urine, it will turn the urine a black color in patients with this condition.
Some patients benefit from high-dose vitamin C. This has been shown to decrease the build-up of brown pigment in the cartilage and may slow the development of arthritis.
The outcome is expected to be good.
People with this condition also can get arthritis in adulthood. The build-up of homogentisic acid in the cartilage causes arthritis in about 50% of older adults with alkaptonuria.
Homogentisic acid also can build up on the heart valves, especially the mitral valve. This can sometimes lead to the need for valve replacement.
Kidney stones and prostate stones may be more common in people with alkaptonuria.
When to Contact a Medical Professional
Call your health care provider if you notice that your own urine or your child's urine becomes dark brown or black when it is exposed to air.
Genetic counseling is recommended for persons with a family history of alkoptonuria who are considering having children.
A blood test can be done to see if you carry the gene for alkaptonuria.
Prenatal tests (amniocentesis or chorionic villus sampling) can be done to screen a developing baby for this condition if the genetic change has been identified.
Chakrapani A, Gissen P, McKiernan P. Disorders of tyrosine metabolism. In: Saudubray J-M, van den Berghe G, Walter JH, eds. Inborn Metabolic Diseases: Diagnosis and Treatment. 5th ed. New York, NY: Springer; 2012:chap 18.
Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Bethanne Black, and the A.D.A.M. Editorial team.