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New cases of rare genetic disorder identified


Scientists at the University of Liverpool, working with international partners, have shown a rare genetic disease, that causes crippling osteoarthritis in the spine and major joints, is far more prevalent worldwide than previously thought. Researchers have identified more than 100 new cases of the disease, called alkaptonuria (AKU) in a small community in Vellore, India, bringing the total number of patients there to 130. Approximately 40 patients have been found in a village in Southern Jordan, but previously the disease had been unknown to healthcare workers in the region. There were only four known cases in the UK in 2003, but this has since risen to more than 80 patients across the country. Source — e! Science News