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.

Living with the Disease

Written by marher45, published 5 months ago.

Now that I'm 50, I notice that living with AKU gets harder every day, though I look for alternative therapies, the situation is not easy at all.

I have been living with the disease since I was 15, but only in my 30s' did I start to notice symptoms like pain in the lumbar area and rigidity. As I knew it was AKU, I turned to a rheumatic disease specialist, who confessed to me that he had never treated a patient with this disease.

And as I've been living with it for so long, every day is different, since new pains appear and add to those I already had. The lumbar area is totally damaged, and slowly and progressively, my body is deteriorating.

I try not to to abuse painkillers, since the road may be long and I don't want to be left without any therapeutic alternatives. I perform physical activity as this disease will allow me, but in recent times I feel my health has suffered even more.

I'm interested in learning about the experiences and alternatives that others may contribute like me, who suffer from alkaptonuria.

Written by marher45, published 5 months ago.

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

    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

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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...