The past 10 years have seen some remarkable progress in research and management of alkaptonuria. The initial identification and characterisation of alkaptonuria as a disease due to an error in metabolism led to the creation of the field of inherited metabolic disease as a branch of Medicine by Sir A E Garrod in 1902.1 Apart from identifying the metabolic basis of the disease as deficiency of homogentisate dioxygenase which affects about 1 in 250,000 people, and that high homogentisic acid concentrations lead to severe multisystem disease dominated by arthropathy, there were few developments for 100 years.
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