Alkaptonuria

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.

This text uses material from Wikipedia licensed under CC BY-SA

Latest Spotlight News

Mandarin makes you more musical?

Mandarin makes you more musical - and at a much earlier age than previously thought. That's the suggestion of a new study from the University of California San Diego. But hold on there, overachiever parents, don't' rush just ...

Soft robot helps the heart beat

Harvard University and Boston Children's Hospital researchers have developed a customizable soft robot that fits around a heart and helps it beat, potentially opening new treatment options for people suffering from heart ...