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

Written by AKU Society UK, published 9 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 booking@akusociety.org to find out more and register your place.

Science Day – Friday 18 November:

- Building clinical trials for AKU using a disease severity score index

- Nitisinone, from weed killer to wonder drug

- Metabolomic investigation in AKU and OA

- Enzyme replacement therapy for AKU

- Gene therapy for AKU

- Novel biomarkers of cartilage and bone for AKU

- And more!

 

Patient Information Day – Saturday 19 November:

- The AKU online community, developed with the European Organisation for Rare Diseases.

- Stories from AKU patients about living with the disease

- A demonstration of new physiotherapy techniques for AKU

- Genetic counselling for AKU

- Lay explanations of the latest progress in AKU research

 

More information here:

http://www.alkaptonuria.info/557296

Written by AKU Society UK, published 9 months ago.

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Alkaptonuria (AKU) Recent Activity

  • -

    Allergy
    topic, published 10 days ago

    show transcript

    I suffer since my childhood of different allergic reactions (rhinitis, cutaneous reactions and more recently I had twice a beginning of respiratory oedema without being able to determine exactly its origin ).
    I' m wondering if there are other Aku- patients suffering from allergy?
    I've been ...

  • -

    New abstract on AKU and shoulder prosthesis
    topic, published about 1 month ago

    show transcript

    Ochronotic arthropathy: diagnosis and management:

    http://www.ncbi.nlm.nih.gov/pubmed/22482092?dopt=Abstract

    But what's a rritical review? critical review??

  • -

    Nitisinone
    topic, published about 1 month ago

    show transcript

    Hi,
    Is there the possibility of entering a clinical trial for the drug Nitisinone?
    Thanks.

  • -

    Degenerative Arthritis of the Knee Secondary to Ochronosis
    document, published 5 months ago

    show transcript

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

  • -

    5th International Workshop on AKU
    topic, published 6 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 8 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.

  • -

    Update
    topic, published 8 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...

  • -

    Action shot photo competition of EULAR for world arthritis day
    topic, published 8 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 ...

  • -

    AKU Society's Year in Review
    topic, published 10 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

  • -

    Getting information on AKU...
    topic, published 10 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...