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Alkaptonuric ochronosis: a clinical study from Ardabil, Iran
Ahad Azami1, Nasrollah Maleki, Zahra Tavosi
1Department of Internal Medicine, Imam Khomeini Hospital, Ardabil University of Medical Sciences, Ardabil, Iran.
Alkaptonuria, a rare metabolic disorder, causes pigment deposition in connective tissues. Early urine screening for homogentisic acid is crucial for diagnosing this condition and its ochronotic manifestations.
Area of Science:
- Metabolic Disorders
- Genetics
- Rheumatology
Background:
- Ochronosis is pigment deposition in connective tissues associated with alkaptonuria.
- Alkaptonuria results from a deficiency in homogentisic acid oxidase, an autosomal recessive metabolic disorder.
- Clinical signs include skin and scleral discoloration, with cartilage involvement.
Purpose of the Study:
- To analyze patients with ochronotic arthropathy.
- To highlight the diagnostic utility of urine screening for homogentisic acid.
Main Methods:
- Retrospective analysis of seven patients with ochronotic arthropathy between September 2011 and September 2013.
- Clinical examination for pigment deposition and arthropathy.
- Urine screening for homogentisic acid.
Main Results:
- All seven patients exhibited bluish-black pigmentations of ear cartilage and sclera.
- Spondylosis was present in all patients; peripheral arthritis in five.
- Urine screening for homogentisic acid was positive in all cases, confirming alkaptonuria.
Conclusions:
- Alkaptonuria is a rare metabolic disorder caused by homogentisic acid oxidase deficiency.
- Widespread screening is recommended to determine the true incidence of alkaptonuria.
- Early detection through urine screening can aid in managing ochronosis and associated arthropathy.
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