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.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Similar content being viewed by others
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2009 Springer-Verlag/Wien
About this chapter
Cite this chapter
(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
Download citation
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
eBook Packages: MedicineMedicine (R0)