Abstract
Alkaptonuria is a rare inborn (autosomal recessive) error of the metabolism of aromatic amino acids phenylalanine and tyrosine where, due to a defective activity of the enzyme called homogentisic acid oxidase, there is no cleavage of homogentisic acid (alkapton) causing accumulation in the body and excretion in urine. Its polymer — ochronotic pigment — impregnates the bradytrophic tissues.
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© 2009 Springer-Verlag/Wien
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(2009). Alkaptonuria and ochronosis. In: Rovenský, J., Payer, J. (eds) Dictionary of Rheumatology. Springer, Vienna. https://doi.org/10.1007/978-3-211-79280-3_34
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DOI: https://doi.org/10.1007/978-3-211-79280-3_34
Publisher Name: Springer, Vienna
Print ISBN: 978-3-211-68584-6
Online ISBN: 978-3-211-79280-3
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