Here's a selection of information from patients & professionals to better understand Alkaptonuria (AKU) .
Alkaptonuria (AKU) resources
Alkaptonuria (AKU) Frequently Asked Questions
Here are some of the most frequently asked questions and their answers:
If you are a patient or carer with a question about living with AKU, about treatments, or other relevant information please email your question to [email protected] and we will put it to the specialists who have agreed to answer your questions from time to time.
At what general age do the hip, knee and shoulder joints start to deteriorate and need replacing?
In general people start complaining of knee pain in their forties. Hip and shoulder pain often occurs later, but usually by fifties. Many people have at least one joint replaced by age 55.
Are there any AKU sufferers out there who have affected children?
This is possible, but very unlikely due to the rare occurrence of alkaptonuria. It would mean that a person with alkaptonuria would have to have children with an individual whom is either a carrier...
Does every AKU patient develop dark pigmentation of the eyeball?
Eventually all patients will develop the characteristic pigment changes. There is dark brown to black pigment accumulating in the white part of the eye at the position where tendons of the eye musc...
Does every AKU patient develop dark pigmentation of the skin and if so, which areas are commonly affected?
The onset of pigmentation of the skin is often at similar ages to the pigmentation of the eyes. It can also vary, being more visible in some patients than others. It is often first seen in the ear ...
We are trying out different methods like diet control to try to reduce the effects of AKU. But the problem we face is how we will know if it is having any effect (if the HGA count has reduced in the urine). So is there a way to know the exact HGA count?
HGA is the chemical that is produced as a byproduct of AKU and causes the damage to the body.
"Normally, humans do not have any HGA in their urine; so the presence in urine indicates AKU. ...
Alkaptonuria (AKU) Patient Groups
These are patient organisations that have experience and expertise in Alkaptonuria (AKU) . They are supporters of this website. Contact them for more information on their activities.
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AKU Society UK
The AKU Society is a UK registered charity (no. 1101052) dedicated to the support of people diagnosed with a rare genetic disease, Alkaptonuria (AKU). It was set up in 2003 by a patient and his doctor in Liverpool. This initial patient/doctor relationship has become a core principle to the society. Today we retain that through supporting patients with AKU and promoting research into understanding AKU’s progression and treatment.
Contact AKU Society UK -
Alcaptonurie France
L'Association pour la Lutte Contre l'Alcaptonurie est une association caritative qui a pour buts de: * Apporter un soutien aux patients et leur permettre de se rencontrer. * Diffuser l'information sur la maladie et sensibiliser les professionnels de la santé. * Promouvoir la recherche médicale. * Collecter des fonds pour réaliser ces buts. * Mettre en relation les patients avec les médecins, généticiens et biologistes compétents.
Contact Alcaptonurie France -
findAKUre
findAKUre is an international partnership involving patient organisations and research groups. We set up findAKUre to foster ground-breaking scientific research and patient partnership in order to drive forward our quest for a cure to AKU. findAKUre is growing rapidly from its origins in the UK to include scientists and patients from across Europe, North America and the Middle East. Indeed, our team in Jordan has identified 40 patients in a single village, including nine in a single family, which is why we are stepping up our work there. We are also increasingly interacting with industry in order to plan clinical trials of promising new treatments. Our aims are to: * Provide the latest high quality scientific information about AKU. * Support AKU patients and their families. * Recruit scientists and clinicians and to promote their research into the causes, effects and treatments of AKU. * Help medical professionals find the best way to support new AKU patients. * Ultimately, to bring together all the resources needed to find a cure to AKU. If you are an AKU scientist, clinician, industrialist or patient, please do get in touch with Dr Nicolas Sireau, Chairman of the AKU Society, at [email protected]
Contact findAKUre -
L’aim AKU
L' Associazione L’aimAKU è un’associazione di volontariato che opera per: * Riunire tutti i malati di alcaptonuria, le loro famiglie, e tutti coloro che intendono contribuire alla lotta contro questa malattia, favorendo incontri fra loro e con esperti. * Promuovere le iniziative volte a migliorare le condizioni di salute dei pazienti e la qualità della vita degli stessi, dei lori familiari e dei caregiver. * Sensibilizzare le autorità sanitarie alla necessità di potenziare l’attività preventiva, curativa e riabilitativa per l’alcaptonuria. * Promuovere iniziative di informazione alla pubblica opinione sulle complicazioni invalidanti dell’alcaptonuria e sulle esigenze dei malati e delle loro famiglie. * Promuovere campagne di raccolta fondi per far acquisire all’associazione i mezzi finanziari utili all’espletamento delle sue funzioni e promuovere ogni iniziativa che valga a potenziare l’attività dell’associazione stessa. * Promuovere la ricerca scientifica nel campo dell’alcaptonuria. * Informare i pazienti sui progressi della ricerca scientifica nel campo dell’alcaptonuria. * Richiedere la collaborazione di società scientifiche che operano nell’interesse dei malati affetti da alcaptonuria. * Promuovere il collegamento con altre associazioni nazionali ed internazionali che perseguono gli stessi scopi. * Promuovere la realizzazione di centri ad alta specialità per la cura dell’alcaptonuria. * Intraprendere tutte le iniziative necessarie per il raggiungimento degli scopi associativi.
Contact L’aim AKU -
AKU Society of North America
The AKU Society of North America is a non-profit organization that focuses on improving the quality of life of AKU patients and their families by providing education, resources, and opportunities for interaction for patients, families, and physicians associated with alkaptonuria (AKU). The Society will raise funds for support of research, education, and meetings to advance knowledge of the disease and possibilities for treatment of AKU. Funds will be raised through solicitation of donations and application for grants.
Contact AKU Society of North America
Alkaptonuria (AKU) Documents
Resources, documents and detailed informations on Alkaptonuria (AKU) . In this section you can download brochures, ask for printed documents or find useful links.
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Rare Disease Reviews – Alkaptonuria
Summary article on Alkaptonuria in PDF format.
Author/Foundation: Oliver Timmis
Year of publication: 2011, English
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AKU Study Compilation of Sample Patient Costs
10 May 2011, .pdf file
Author/Foundation: Michael Craig, AKU Society Volunteer
Year of publication: 2011, English
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WHAT ALKAPTONURIA PATIENTS NEED TO KNOW ABOUT NITISINONE (ORFADIN®, NTBC)
Introduction This article is designed to give people suffering from Alkaptonuria (AKU) a patient’s viewpoint on what Nitisinone is, why it is a possible treatment for AKU and what is known about the effects from using it over a long period. I’ve referenced some websites in this article. Please note I have no control over the contents of these sites, neither do I have any connection, either commercial or otherwise, with them and therefore neither endorse nor recommend them (apart from the website for the AKU Society, of which I am a member).
Author/Foundation: AKU Society UK
Year of publication: 2011, English
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LETTRE D’INFORMATION N° 14 (SEPTEMBRE 2011)
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.
Author/Foundation: ALCAP
Year of publication: 2011, French
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AKU Society Newsletter
4th edition of the newsletter from Autumn 2010
Author/Foundation: AKU Society UK
Year of publication: 2010, English
Alkaptonuria (AKU) Articles
Most recent articles:
Identification of alkaptonuria in the general population: a United Kingdom experience describing the challenges, possible solutions and persistent barriers
Authors: L. Ranganath, A. M. Taylor, A. Shenkin, W. D. Fraser, J. Jarvis, J. A. Gallagher and N. Sireau
Summary: "This paper details the work of the AKU Society UK and the University of Li...
Orphanet article on AKU (2007)
Alkaptonuria is characterised by the accumulation of homogentisic acid (HGA) and its oxidised product benzoquinone acetic acid (BQA), leading to a darkening of the urine when it is left exposed to ...
Symptoms of Alkaptonuria
Most young people (under 20) have few or no symptoms other than the discolouration of their urine, which turns black when left to stand in air:
Narrowing and calcification of intervertebra...
What is AKU?
The information here merely provides a general description of the condition without being too detailed or technical.
Information provided by the National Heart, Lung, and Blood Institute and Na...
Living with AKU
Exercise
AKU makes your cartilage and bone brittle. Therefore it is best to avoid putting too much stress on your joints. This does not mean that you should avoid exercise completely; it can stil...
Alkaptonuria (AKU) Events
Most recent events:
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February 2012
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VII International Conference on Rare Diseases and Orphan Drugs (ICORD 2012)
From 4 to 6 February 2012
A global meeting on international cooperation and public health policies focusing on research, diagnosis, development of and access to treatment, and care for rare diseases, will be held in Tokyo. The VII ICORD Conference will offer a platform for the exchange of perspectives for medical and healthcare professionals, patients and patients’ groups, basic and clinical researchers, policy-makers, government officers and pharmaceutical, biotechnology and medical device industries.
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Rare Cancers Conference: Improving the Methodology of Clinical Research
On 10 February 2012
The European Society for Medical Oncology and Rare Cancers Europe have joined forces to present the first Conference addressing the scientific and educational needs of relevant stakeholder groups concerning challenges and potential solutions in the field of clinical research on rare cancers. The conference will take place in Brussels, Belgium.
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National Health Policy Conference
On 13 February 2012
The National Health Policy Conference (NHPC) provides clarity on the nation's critical health policy issues for the upcoming year and delivers a program with insider perspectives from health policy leaders to an audience that includes researchers, policy experts, and advocates. This event is taking place in Washington, D.C.
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5th International Rare Disease Day 2012
From 29 February to 1 March 2012
February 29, 2012 marks the fifth international Rare Disease Day coordinated by EURORDIS and organised with rare disease national alliances in 25 European countries.On this day hundreds of patient organisations from more than 40 countries worldwide are organsing awareness-raising activities converging around the slogan “Rare but strong together”. Activities will take place across Europe, all the way to Russia, continuing to China and Japan, in the US and Canada, and as far as Australia and New Zealand! United States participants can find more information here: http://rarediseaseday.us/
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1st International Congress on Research of Rare and Orphan Diseases
From 29 February to 2 March 2012
Gebert Rüf Stiftung and BLACKSWAN Foundation, both active in supporting research activities in the field of rare diseases, are preparing the first “International Congress on Research of Rare and Orphan Diseases – RE(ACT)” in 2012. It will take place at the Gehry Building on the Novartis Campus, Basel/Switzerland from February 29th to March 2nd 2012. A superb setting for stimulating learning, exchange and networking. The “RE(ACT) Congress 2012” will bring together world leaders and young scientists from both university and industry to present cutting edge research, to discuss results and to exchange ideas.
Alcaptonurie community news
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A Patient’s Journey- Living with alkaptonuria
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News, published about 1 month ago -
Alkaptonuria: Treasure your exceptions
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News, published 3 months ago -
Nuclear medicine techniques in the assessment of alkaptonuria.
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News, published 4 months ago -
Early-onset ocular ochronosis in a girl with alkaptonuria (AKU) and a novel mutation in homogentisate 1,2-dioxygenase (HGD).
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News, published 5 months ago -
An unusual dark pigmentation on the tympanic membrane.
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News, published 5 months ago -
Perioperative management of patient with alkaptonuria and associated multiple comorbidities
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News, published 5 months ago -
A quantitative assessment of alkaptonuria : Testing the reliability of two disease severity scoring systems.
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News, published 5 months ago -
Nitisinone (NTBC) In Different Age Groups Of Patients With Alkaptonuria
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News, published 5 months ago -
Collagen atomic scale molecular disorder in ochronotic cartilage from an alkaptonuria patient, observed by solid state NMR
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News, published 5 months ago -
An update on molecular genetics of Alkaptonuria (AKU)
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News, published 6 months ago