Ochronosis

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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Ochronosis
File:Homogentisic acid.svg 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

File:Hellocker- Pigment.JPG

Pigment deposition in ochronosis

File:Inborn errors of metabolism of phenylalanine and tyrosine.svg

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

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

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

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

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

• Alkaptonuria
• Metabolic disorder
• Connective tissue