Alkaptonuria (AKU) community

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.

The Cardiff Experience

Written by Simon, published 7 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 Professor Gallagher about the research going on and spent some time talking with Dr Introne, who I know through taking part in the USA Nitisinone trials.

We also met another AKU patient, Jennifer, and her husband John, who were really nice and a pleasure to talk to. We shared stories and had a laugh. It felt like we had known each other for years. My wife told me afterwards that it was a relief to be able to talk to someone else who was in the same situation."

"Before the conference, we were all treated to an impressive buffet lunch, which catered for everyone and tasted delicious. I was almost tempted to go up for seconds!"

"After the buffet, we moved across to the conference hall, which filled up pretty quickly. Prof James Leonard chaired the conference. He did a great job of introducing each speaker and asked relevant questions after they had finished."

"Prof Jim Gallagher started the conference off. He explained about the research he and his team were doing at the University of Liverpool and their current findings. He had a good presentation, which was aimed more at the medical profession but was fairly
easy to follow."

"Next up was Dr Nick Sireau. He talked to us about the growth of the Alkaptonuria movement and the support that it is giving, not only to patients but to families as well. He speaks from experience as he has two children with AKU. He is very passionate about the work the AKU Society is doing and is a great spokesperson for the cause."

"Dr Ranganath took to the podium next. He discussed the work that has been going on in Liverpool and how they have developed a new disease severity score index. This will enable them to follow the progress of AKU in individual patients. Hopefully it will also be a way of following the progress and effectiveness of any new treatments in the future."

"The last person to make their presentation was Dr Wendy Introne, from the National Institutes of health. She gave a very interesting talk on the work that they have been doing at the NIH and the findings so far. This was of particular interest to me as I am taking part in the study. The use of Nitisinone decreased the production of homogentisic acid by up to 95% and gave very few side effects.

Even so, the clinical trials of Nitisinone were stopped in 2009, due to the inconclusive findings between the control group and the patients taking the drug. They are now looking at ways of carrying the study on using different means of testing."

"Overall I am glad that I travelled to the conference as I learnt a lot more about the work that is ongoing, both here in the UK and abroad. The passion and determination of all the people involved is evident when you see and speak to them. I would advise anyone who is thinking about attending one of the workshops or conferences to do so. Meeting and talking to the team of doctors and people involved with the AKU Society will prove to you that there are people out there who care and who are willing to fight on our behalf. I feel that they will never give up until something is done to either control AKU or cure it."


The AKU Society's next workshop will be held in Liverpool, on 18-19 November 2011. We're still finalising details, but check the Workshops page for the latest news, and booking will open from September at

Written by Simon, published 7 months ago.

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Patient groups

  • AKU Society UK

  • Alcaptonurie France

  • findAKUre

  • L’aim AKU

  • AKU Society of North America

Alkaptonuria (AKU) Recent Activity

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    Degenerative Arthritis of the Knee Secondary to Ochronosis
    document, published about 1 month ago

    show transcript

    Bulletin of the NYU Hospital for Joint Diseases 2011;69(4):331-4

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    5th International Workshop on AKU
    topic, published 2 months ago

    show transcript

    A selection of presentations from those speakers who have given permission for their slideshows to be published are now available to download on the AKU Society website at:

    http://www.alkaptonuria.info/557296

    Thanks Oliver from the AKU Society

  • -

    LETTRE D’INFORMATION N° 14 (SEPTEMBRE 2011)
    document, published 5 months ago

    show transcript

    Cette lettre est diffusée par courrier postal ou internet aux personnes atteintes d’Alcaptonurie-Ochronose, à leurs familles, aux amis et aux membres de l’ALCAP, aux donateurs, aux médecins et chercheurs, et à toute personne qui s’intéresse à l’Alcaptonurie en France, en Belgique et en Suisse.

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    Update
    topic, published 5 months ago

    show transcript

    After these summer months, with a moody weather season and my health being as variable as the weather, here I am back to you taking a little time to write.

    You certainly know that the AKU Society is organizing the 5th International Workshop on AKU This event will be held at the Medical Institu...

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    Action shot photo competition of EULAR for world arthritis day
    topic, published 5 months ago

    show transcript

    Dear all,
    I just submitted an 'action shot photo’ to enter a competition of
    the European Arthritis Foundation (EULAR) specially designed for the
    world arthritis day. The slogan for this competition is move to
    improve, i.e. how sport can improve mobility or slow down the
    progress of one’s ...

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    AKU Society's Year in Review
    topic, published 7 months ago

    show transcript

    Check it out here:
    http://www.alkaptonuria.info/557292

    While on the website, don't forget to book for the upcoming November meeting in Liverpool:

    http://www.alkaptonuria.info/557296

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    Getting information on AKU...
    topic, published 7 months ago

    show transcript

    The National Institutes of Health have Genetic and Rare Disease (GARD) Information specialists that may be able to help you find information.

    The GARD Information Center does not provide genetic counseling and does not offer diagnostic testing, referrals, medical treatment or advice.

    Ther...

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    AKU
    topic, published 7 months ago

    show transcript

    I am 67 yrs old and I feel like I'm 107 The pain in my joints are unbearable almost all the time. I was diagoinsed with this when I was about 50's or so. The pain just keeps on getting worse and it is so hard to get around. I walk with a cane ,out of the house.In the house I walk with a walker. I...

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    Nitisinone (NTBC) In Different Age Groups Of Patients With Alkaptonuria
    news, published 7 months ago

    show transcript


    The objective of this research is to explore reported age related differences in toxicity of nitisinone and its pharmacokinetic underpinnings and to develop an optimal therapeutic requirement for a targeted population of presymptomatic patients...

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    Collagen atomic scale molecular disorder in ochronotic cartilage from an alkaptonuria patient, ob...
    news, published 7 months ago

    show transcript


    In pilot studies of the usefulness of solid state nuclear magnetic resonance spectroscopy in characterizing chemical and molecular structural effects of alkaptonuria on connective tissue, we have obtained (13) C spectra from articular cartilage...