Alkaptonuria Research Points to New Nitisinone Treatment

According to a Science Daily report, new research by a group in Liverpool recently uncovered a drug for the treatment of alkaptonuria. Researchers published the collaborative study in the journal Molecular Genetics and Metabolism. The drug in questions I known as nitisinone. Researchers showed the drug is capable of stopping the progression of alkaptonuria. Keep reading to learn more, or follow the original story here for more information.

What is Alkaptonuria?

Alkaptonuria is a rare metabolic disorder. In cases of alkaptonuria, the body is unable to produce sufficient amounts of the enzyme known as homogentisic dioxygenase (HGD). As a result of lower HGD levels, the body stores too much homogentisic acid. Over time, this acid causes discolored bones, and cartilage which become progressively fragile.

Dark blue or black urine (when exposed to air) is considered an early sign and symptom of alkaptonuria. People living with alkaptonuria may also experience symptoms which are found in osteoarthritis. Other symptoms include dark spots in the whites of the eyes, kidney and prostate stones, and blue-speckled discoloration of the skin.

Click here to learn more about alkaptonuria.


The study involving the new treatment for alkaptonuria occurred at the Robert Gregory National Alkaptonuria Centre (NAC). This NHS-funded institute is based at the Royal Liverpool University Hospital and is operated collaboratively with the University of Liverpool and AKU society.

The study consisted of 39 alkaptonuria patients given nitisinone. Each patient was given a daily 2mg dose of the treatment for three years. According to the study’s results, nitisinone lowers the level of HGD in the body. Consequently, this puts a stop to alkaptonuria. The study’s published conclusions also describe the treatment as being able to reverse ochronosis to some degree.

Patients given the nitisinone treatment also experienced a decreased symptoms of osteoarthritis and a lower risk for heart disease. One patient is quoted describing the new treatment as “effective and fantastic.” This patient, having lived with alkaptonuria for 30 years, should be experiencing heart complications, but nitisinone has prevented any sign of such difficulties.

NAC’s director, Professor Lakshminarayan Ranganath describes how the research brings hope both for patients and researchers. Previous research already showed some of the effects of nitisinone in mice. Showing its benefits in human patients, however, required the development of “innovative and pioneering approaches” by the NAC team.

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