Alkaptonuria

Earwax: A new frontier of human odor information

Scientists from the Monell Center have used analytical organic chemistry to identify the presence of odor-producing chemical compounds in human earwax. Further, they found that the amounts of these compounds differ between ...

Feb 12, 2014
popularity 4.5 / 5 (2) | comments 0

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

New paper describes how DNA avoids damage from UV light

In the same week that the U.S. surgeon general issued a 101-page report about the dangers of skin cancer, researchers at Montana State University published a paper breaking new ground on how DNA – the genetic code in every ...

Birthday matters for wiring-up the brain's vision centers

Researchers at the University of California, San Diego School of Medicine have evidence suggesting that neurons in the developing brains of mice are guided by a simple but elegant birth order rule that allows them to find ...

Insular cortex alterations in mouse models of autism

The insular cortex is an integral "hub", combining sensory, emotional and cognitive content. Not surprisingly, alterations in insular structure and function have been reported in many psychiatric disorders, ...

Drug target identified for common childhood blood cancer

In what is believed to be the largest genetic analysis of what triggers and propels progression of tumor growth in a common childhood blood cancer, researchers at NYU Langone Medical Center report that they have identified ...