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Alkaptonuria

Alkaptonuria also known as alcaptonuria or ochronosis is a rare inherited genetic disorder of tyrosine metabolism. more...

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Causes

This is an autosomal recessive trait that is caused by a defect in the enzyme homogentisic acid oxidase (EC 1.13.11.5). The enzyme normally breaks down a toxic tyrosine byproduct, homogentisic acid (also called alkapton), which is harmful to bones and cartilage and is excreted in urine.

Symptoms

A distinctive characteristic of alkaptonuria is that urine exposed to air turns dark (or black) after several hours because of the homogentisic acid. In adulthood, persons suffering from alkaptonuria develop progressive arthritis (especially of the spine), due to its degenerative effects on bones and cartilage.

Diagnosis

Presumptive diagnosis can be made by adding sodium or potassium hydroxide to urine and observing the formation of a dark brown to black pigment on the surface layer of urine within 30 minutes to 1 hour. Diagnosis can be confirmed by demonstrating the presence of homogentisic acid in the urine. This may be done by paper chromatography and thin-layer chromatography (Seegmiller, 1998).

Treatment

Prevention is not possible and the treatment is aimed at ameliorating symptoms.

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Cutaneous markers in Ochronosis.(Letter To Editor) : An article from: Indian Journal of Medical Sciences $5.95 Lichen amyloidosus: A study of clinical, histopathologic and immunofluorescence findings in 30 cases.(Studies) : An article from: Indian Journal of Dermatology, Venereology and Leprology $5.95

Alkaptonuria diagnosed by flexible bronchoscopy
A 68-year-old white man was evaluated for failure to wean from mechanical ventilation after cardiac surgery. Bronchoscopy performed prior to percutaneous ...
Spontaneous tendon ruptures in alkaptonuria/Author's reply
Sir, We read with interest the article by Manoj Kumar and Rajasekaran1 in the August 2003 issue entitled 'Spontaneous tendon ruptures in alkaptonuria'.
Spontaneous tendon ruptures in alkaptonuria
Received 5 July 2002; Accepted after revision 16 December 2002 Ochronosis, the musculoskeletal manifestation of alkaptonuria, is known to lead to degenerative ...
Dura mater involvement in ochronosis (alkaptonuria)
Clinical manifestations of alkaptonuria have been well described and are most commonly characterized by ochronosis or pigmentation of connective tissue.
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