The book ‘Inborn Errors of Metabolism’, by Sir Archibald Garrod, the scientist who identified AKU more than 100 years ago, can be downloaded for free from: http://www.esp.org. The chapters on AKU can be downloaded as PDFs here: Chapter 4, Chapter 5.
The AKU science groups have been particularly prolific, with a number of new papers published:
‘An update on molecular genetics of Alkaptonuria (AKU)’, by Andrea Zatkova (Slovakia AKU Research Group), has just been published in the Journal of Inherited Metabolic Disorders: http://www.springerlink.com
‘Pharmacological and toxicological considerations of homogentisic acid in Alkaptonuria’, by D.P. Williams, Amy Lawrence and Xiaoli Meng (Liverpool AKU Research Group), has just been published in Pharmacologica and can be downloaded in full for free at: http://pharmacologia.co.uk
‘Ochronosis and calcification in the mediastinal mass of a patient with alkaptonuria’, by Taylor et al (Liverpool group) has just been published in the Journal of Clinical Pathology: http://www.ncbi.nlm.nih.gov/
The Indian Journal of Dermatology just published a case study on AKU. The full paper can be downloaded for free here: http://www.ncbi.nlm.nih.gov