Abstract
Ochronosis, also known as alkaptonuria, is a very rare autosomal recessive metabolic disease characterized by accumulation of homogentisic acid (HGA) in body tissues due to an inherited deficiency of the enzyme HGA oxidase. HGA is a main product of the amino acids tyrosine and phenylalanine. Acquired form of ochronosis can be seen after exposure to some chemicals like hydroquinone.
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Further Reading
Çapkin E et al Ochronosis in differential diagnosis of patients with chronic back ache: a review of the literature. Rheumatol Int. 2007;28:61–4
Demir S. Alkaptonuric ochronosis: a case with multiple joint replacement arthropathies. Clin Rheumatol. 2003;22:437–39
Lagier R et al Hip arthropathy in ochronosis: anatomical and radiological study. Skeletal Radiol. 1980;5:91–8
Güar D et al Ochronosis and lumbar disc. Acta Neurochir (Wien). 2006;148:891–94
Şahin G et al A case of ochronosis: upper extremity involve- ment. Rheumatol Int. 2001;21:78–80
Bal S et al Ochronosis with cardiovascular involvement: a case report. Rheumatol Int. 2008;28:479–82
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Al-Tubaikh, J.A. (2010). Ochronosis (Alkaptonuria). In: Al-Tubaikh, J.A. (eds) Internal Medicine. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-03709-2_69
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DOI: https://doi.org/10.1007/978-3-642-03709-2_69
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-642-03708-5
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