Alkaptonuria

Sorry, no news articles match your request. Your search criteria may be too narrow.

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

A challenge to expedite Genervon's new ASL drug

(Medical Xpress)—The Ice Bucket Challenge to raise awareness for Amyotrophic lateral sclerosis (ALS) went viral on social media last summer. Over 1.2 million videos were posted on Facebook alone. The difficulty ...

Lung cancer clues found in downstream pathway

Despite the promise of the gene KRAS as a target for treating lung cancer, finding effective therapies has been challenging. Now researchers are traveling down the pathway to find what makes KRAS cancerous.

Using stem cells to grow new hair

In a new study from Sanford-Burnham Medical Research Institute (Sanford-Burnham), researchers have used human pluripotent stem cells to generate new hair. The study represents the first step toward the development ...