A new study published in Molecular Genetics and Metabolism, conducted by a Liverpool based research collaboration involving the University of Liverpool, has identified the drug that treats the extremely rare genetic disease ...
Aug 1, 2018
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A new mechanism of joint destruction caused by a natural material that grinds away healthy cartilage and worsens osteoarthritis has been identified in human hip joints for the first time by University of Liverpool scientists.
Aug 11, 2014
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(Medical Xpress)—Scientists at the University of Liverpool have found that a drug treatment administered at the earliest signs of a rare genetic disease could prevent the condition from developing in later life.
Apr 4, 2013
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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 ...
Feb 13, 2012
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Alkaptonuria (black urine disease or alcaptonuria) is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism. This is an autosomal recessive condition that is due to a defect in the enzyme homogentisate 1,2-dioxygenase (EC 1.13.11.5), which participates in the degradation of tyrosine. As a result, a toxic tyrosine byproduct called homogentisic acid (or alkapton) accumulates in the blood and is excreted in urine in large amounts (hence -uria). Excessive homogentisic acid causes damage to cartilage (ochronosis, leading to osteoarthritis) and heart valves as well as precipitating as kidney stones. Treatment with nitisinone, which suppresses homogentisic acid production, is being studied. Alkaptonuria is more common in Slovakia and the Dominican Republic than in other countries.
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