Ochronosis
Ochronosis
Ochronosis (pronunciation: oh-kroh-NOH-sis) is a rare metabolic disorder characterized by the accumulation of homogentisic acid in connective tissues, leading to pigmentation changes and degeneration of cartilage and collagen.
Etymology
The term "ochronosis" is derived from the Greek words "ochros," meaning pale yellow, and "osis," meaning condition. This refers to the distinctive bluish-black discoloration of tissues seen in this condition.
Symptoms
The primary symptom of ochronosis is a bluish-black discoloration of the skin and other tissues, particularly the cartilage and collagen. Other symptoms may include arthritis, heart valve disease, and kidney stones.
Causes
Ochronosis is caused by a deficiency in the enzyme homogentisate 1,2-dioxygenase, which leads to an accumulation of homogentisic acid in the body. This is typically due to a genetic mutation in the HGD gene.
Diagnosis
Diagnosis of ochronosis is typically made through a combination of clinical examination and laboratory testing. This may include a urine test to detect elevated levels of homogentisic acid, as well as genetic testing to identify mutations in the HGD gene.
Treatment
There is currently no cure for ochronosis. Treatment is focused on managing symptoms and may include pain management, physical therapy, and surgery to replace damaged joints.
Related Terms
- Alkaptonuria: A rare inherited genetic disorder that often leads to ochronosis.
- Homogentisic acid: A compound that accumulates in the tissues of individuals with ochronosis.
- Homogentisate 1,2-dioxygenase: The enzyme that is deficient in individuals with ochronosis.
External links
- Medical encyclopedia article on Ochronosis
- Wikipedia's article - Ochronosis
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