Alcaptonuria
Alcaptonuria (pronounced al-cap-ton-ur-ia) is a rare inherited genetic disorder in which the body cannot process certain amino acids properly. This condition is also known as AKU or black urine disease.
Etymology
The term "Alcaptonuria" is derived from the Greek words "alkapton" which means "a harmful substance" and "ouron" which means "urine". This is because people with this condition have urine that turns dark when exposed to air.
Symptoms
The most noticeable symptom of Alcaptonuria is the darkening of the urine. Other symptoms may include:
- Arthritis - inflammation of the joints
- Ochronosis - a buildup of dark pigment in connective tissues such as the skin and cartilage
- Heart disease - due to the buildup of pigment in the heart valves
- Kidney stones - due to the buildup of pigment in the kidneys
Causes
Alcaptonuria is caused by a mutation in the HGD gene. This gene provides instructions for making an enzyme that helps break down certain amino acids. If this enzyme is not working properly, a substance called homogentisic acid builds up in the body and is excreted in the urine, causing it to darken.
Diagnosis
Diagnosis of Alcaptonuria is usually made through a urine test. If the urine darkens after being left to stand for a few hours, this is a strong indication of the condition. Genetic testing can also be used to confirm the diagnosis.
Treatment
There is currently no cure for Alcaptonuria. Treatment is focused on managing symptoms and may include:
- Pain management - to help with arthritis symptoms
- Physical therapy - to maintain joint mobility
- Dietary changes - to limit the intake of certain amino acids
See also
External links
- Medical encyclopedia article on Alcaptonuria
- Wikipedia's article - Alcaptonuria
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