Alkaptonuria
Alkaptonuria: New hope for treatment of rare genetic disease
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Arthritis & Rheumatism
Apr 04, 2013 |
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EU releases 144 mn euro for new rare disease research
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Genetics
Feb 28, 2013 |
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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 ...
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Modern genetics answers age-old question on Garrod's fourth inborn error of metabolism
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Genetics
Oct 31, 2011 |
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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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