Alkaptonuria
Alkaptonuria (pronounced al-cap-ton-ur-ia) is a rare inherited genetic disorder in which the body cannot process the amino acids phenylalanine and tyrosine, which are found in protein. This leads to a buildup of a substance called homogentisic acid in the body. The excess homogentisic acid is excreted in the urine, causing it to turn dark when exposed to air.
Etymology
The term "Alkaptonuria" is derived from the Greek words "alkali", which refers to any substance that has basic (as opposed to acidic) properties, and "kapton", which means to smoke or to produce smoke. The "uria" suffix indicates a condition related to the urine.
Symptoms
The most noticeable symptom of Alkaptonuria is dark urine. Other symptoms can include arthritis, particularly in the spine and large joints, heart disease, kidney stones, and prostate stones.
Diagnosis
Alkaptonuria is diagnosed through urine tests. If the urine turns dark upon standing or if it darkens immediately when alkali is added, this suggests the presence of homogentisic acid, indicating Alkaptonuria.
Treatment
There is currently no cure for Alkaptonuria. Treatment focuses on managing symptoms and includes pain relief for arthritis, physiotherapy, and joint replacement surgery if necessary.
Related Terms
- Amino Acids
- Phenylalanine
- Tyrosine
- Homogentisic Acid
- Arthritis
- Heart Disease
- Kidney Stones
- Prostate Stones
External links
- Medical encyclopedia article on Alkaptonuria
- Wikipedia's article - Alkaptonuria
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