Ochronosis

From WikiMD.org
Jump to navigation Jump to search

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

External links

Esculaap.svg

This WikiMD dictionary article is a stub. You can help make it a full article.


Languages: - East Asian 中文, 日本, 한국어, South Asian हिन्दी, Urdu, বাংলা, తెలుగు, தமிழ், ಕನ್ನಡ,
Southeast Asian Indonesian, Vietnamese, Thai, မြန်မာဘာသာ, European español, Deutsch, français, русский, português do Brasil, Italian, polski