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.

Self-Management - Alkaptonuria by Genetic Alliance UK 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...

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An American patient who was on Nitisinone by AKU Society UK 6 months ago


As you know I've had very longstanding medical and emotional issues due to the impact AKU has made on my life, family, marriage, and career. National Institutes of Health (NIH) in Bethesda MD, U.S.A in 2001 gave me the validation I needed to move forward in my life. That the pain was real, my numerous medical issues were real, and they informed me of my future and what I may expect.
In June 2005, I started participation in the long term clinical trial of Nitinisone. Happy Day! I had no complications whatsoever. NIH brought me back ...

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Nick Sireau: Building the Alkaptonuria Movement Using the Web by AKU Society UK 6 months ago


6 months ago, Dr. Nick Sireau left his job to devote his efforts full time to finding a cure for a rare genetic disease called Alkaptonuria that effects his children. In this video, he describes...

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Scientific meeting on AKU in Cardiff by AKU Society UK 7 months ago


The AKU Society is delighted to announce a meeting to discuss Alkaptonuria on 29 June 2011 in Cardiff.
It will be chaired by Prof James Leonard, Emeritus Professor of Metabolic Disease at the Institute of Child Health in London. This meeting will be held immediately before the Annual Symposium of the British Inherited Metabolic Disease Group (BIMDG), and will be jointly sponsored by Swedish Orphan Biovitrum Ltd and the AKU Society.

The meeting will be a scientific one, with an introduction from our research team in Liverpool on th...

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Patient groups

  • AKU Society UK

  • Alcaptonurie France

  • findAKUre

  • L’aim AKU

  • AKU Society of North America

More information about these groups

Alkaptonuria (AKU) Recent Activity

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    5th International Workshop on AKU
    topic, published 3 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 2 months ago

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    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

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    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

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    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

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    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

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    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 5 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...