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.

An English patient who was on Nitisinone by AKU Society UK published 7 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.
In 1997, I started to get severe pain in my lower back. My doctor told me to rest but, after the pain became...

Read more

Video: Alkaptonuria (AKU) a rare disease affecting joints by Denise published 8 months ago


A personal statement of life with alkaptonuria.


AKU Rare Disease Community




Read more

Luna's Story by Luna published 9 months ago


I was born in Italy, but I've lived in France for a very long time. My story as an AKU patient is similar to that of many other people who share my condition. I had presented symptoms for years before I was diagnosed. That lag occurred because there is lack of information about this rare disease.
I was born in Italy, but I've lived in France for a very long time. My story as an AKU patient is similar to that of many other people who share my condition. I had presented symptoms for years before I was diagnosed. That lag occurred...

Read more

Alkaptonuria: infant indication, adult onset by Irene Palko published 9 months ago


This article was first published in the October 2010 issue of the EURORDIS newsletter...
Simon Laxon was, unusually, diagnosed with Alkaptonuria (AKU) when he was six weeks old. The doctors didn't know much about Alkaptonuria and told my parents that it was a harmless genetic disorder that caused no problems in younger life but would cause the cartilage in my ears and nose to turn blu...

Read more

Patient groups

  • AKU Society UK

  • Alcaptonurie France

  • findAKUre

  • L’aim AKU

  • AKU Society of North America

More information about these groups

Filters

Alkaptonuria (AKU) Recent Activity

  • -

    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

  • -

    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.

  • -

    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...

  • -

    Action shot photo competition of EULAR for world arthritis day
    topic, published 3 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 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

  • -

    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...

  • -

    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...

  • -

    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...

  • -

    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...

  • -

    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...