Ochronosis

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(Redirected from Exogenous ochronosis)

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Ochronosis
Chemical structure of homogentisic acid
Synonyms N/A
Pronounce N/A
Specialty N/A
Symptoms Darkening of the skin, arthritis, heart valve disease
Complications Joint destruction, cardiovascular complications
Onset Typically in adulthood
Duration Chronic
Types N/A
Causes Alkaptonuria, exposure to certain chemicals
Risks Genetic predisposition, exposure to phenol or hydroquinone
Diagnosis Clinical evaluation, urine test for homogentisic acid
Differential diagnosis Melanosis, hemochromatosis, argyria
Prevention N/A
Treatment Vitamin C, dietary restriction of phenylalanine and tyrosine, joint replacement surgery
Medication N/A
Prognosis Variable, depends on severity and management
Frequency Rare
Deaths N/A


Pigment deposition in ochronosis
Metabolic pathway of phenylalanine and tyrosine

Ochronosis is a metabolic disorder characterized by the accumulation of homogentisic acid in connective tissues. It is a rare condition, often associated with Alkaptonuria, a metabolic disorder that affects the body's ability to break down certain amino acids.

Symptoms[edit | edit source]

The most common symptom of Ochronosis is darkening of the skin, particularly in areas exposed to the sun. Other symptoms may include arthritis, heart disease, and kidney stones. The severity of symptoms can vary widely among individuals with the condition.

Causes[edit | edit source]

Ochronosis is caused by a deficiency in the enzyme homogentisate 1,2-dioxygenase, which is involved in the breakdown of the amino acids phenylalanine and tyrosine. This deficiency leads to the accumulation of homogentisic acid in the body, which can cause damage to connective tissues.

Diagnosis[edit | edit source]

Diagnosis of Ochronosis is typically based on the presence of characteristic symptoms, such as darkening of the skin and arthritis. Laboratory tests can also be used to measure the levels of homogentisic acid in the urine.

Treatment[edit | edit source]

There is currently no cure for Ochronosis, but treatment can help manage symptoms. This may include pain management for arthritis and lifestyle changes to prevent kidney stones.

See also[edit | edit source]

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Contributors: Prab R. Tumpati, MD