Alkaptonuria (AKU) is a rare autosomal recessive disease, affecting tyrosine metabolism. Patients accumulate homogentisic acid at 2000 times the normal rate, resulting in cartilage degradation and symptoms similar to early-onset osteoarthritis.
5th International Workshop on AKU by AKU Society UK published 4 months ago
The 5th International Workshop on AKU will be held at the Liverpool Medical Institution on 18-19 November 2011.
The AKU Society UK is planning a two day event, with an in depth science day on the 18th, and a patient information day on the 19th. Check out the flyer and contact [email protected] to find out more and register your place.
Science Day – Friday ...
Personal Experience with Taking Nitisinone by AKU Society UK published 4 months ago
The AKU Society have been collecting stories from other AKU patients on Nitisinone - some are taking it off-label, whereas others were given it as a part of a clinical trial to see if it is an effective treatment. This is one of those stories, to read more, download them here. We still need to know more about Nitisinone, so if there are any patients who are taking it regularly, please contact us to discuss your experiences.
"I’m in my late forties and I’m one of the few people who have been taking Nitisinone off l...
The Cardiff Experience by Simon published 5 months ago
"We attended the recent AKU Conference in Cardiff and felt that I had to let other AKU patients know about our experience."
"I wasn’t too sure what to expect and felt a bit guilty about dragging my wife along. As she doesn’t have AKU I was worried that she would find it boring. I shouldn't have worried! As soon as we arrived we were met by Oliver Timmis, who made us feel welcome and at ease. He kindly introduced to all of the people who were to speak at the conference. We had an interesting chat with Prof...
Self-Management - Alkaptonuria by Genetic Alliance UK published 5 months ago
Robert McIver shares his story of managing Alkaptonuria, a genetic condition that only affects 1-4 people per million, from a rural area in Scotland.
Video by Genetic Alliance UK: www.genetic...