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.

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...

Patient groups

  • AKU Society UK

  • Alcaptonurie France

  • findAKUre

  • L’aim AKU

  • AKU Society of North America

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Alkaptonuria (AKU) Recent Activity

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    5th International Workshop on AKU
    topic, published 13 days 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

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    LETTRE D’INFORMATION N° 14 (SEPTEMBRE 2011)
    document, published 3 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 3 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 3 months ago

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    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 5 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 5 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 5 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 5 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 5 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...

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    An update on molecular genetics of Alkaptonuria (AKU)
    news, published 6 months ago

    show transcript


    Alkaptonuria (AKU) is an autosomal recessive disorder caused by a deficiency of homogentisate 1,2 dioxygenase (HGD) and characterized by homogentisic aciduria, ochronosis, and ochronotic arthritis. The defect is caused by mutations in...