Alkaptonurie (AKU) community

Alkaptonurie (AKU) ist eine seltene autosomal-rezessive Erbkrankheit des Tyrosinstoffwechsels. Patienten haben eine 2000-fache höhere Anreicherung des Zwischenproduktes Homogentisinsäure, was einen Knorpelabbau mit Symptomen ähnlich einer früh einsetzenden Arthrose verursacht.

Luna's Story von Luna Seit 19 Tage


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...

Erste Zeichen beim Säugling, Beschwerden beim Erwachsenen von Irene Palko Seit 28 Tage


Dieser Artikel wurde zuerst in der Oktober 2010 -Ausgabe des EURORDIS-Newsletter veröffentlicht...
Die Alkaptonurie (AKU) kann schon im Säuglingsalter diagnostiziert werden. Oft wird die Krankheit aber erst bei Erwachsenen erkannt. Bei Simon Laxon wurde schon im Alter von sechs Wochen wegen verfärbter Windeln eine Alkaptonurie (AKU) diagnostiziert. „Die Ärzte wus...

My Life with AKU von postalbutterfly99 Seit etwa 1 Monat

My Name is Janet and I’m from the United States. Have you ever heard the saying, "Enjoy Life because in a blink of an eye it can all change". In February of 1996, that is exactly what happened to me. I went in for a simple outpatient procedure on my knee and when I came out of recovery, I was told that something was not right but they were unsure of what was wrong. The doctor explaine...

aku- alcaptonuria von manuela Seit etwa 1 Monat

Los medicos, rara vez, te quieren ayudar. Hola, soy de España, y me la diagnosticaron cuando nací, al hacer el primer pipi, y despúes de varios meses al tener la cerilla de los oidos de color negro.
Somos 7 hermanos y solo 3 tenemos esta enfermedad, yo soy la mayor, tengo actualmente 41 años, y creo que toda mi vida he vivido con molestias, pero sobre todo desde que cumpli los 25 años y tuve a...

Patienten Gruppen

  • AKU Society UK

  • Alcaptonurie France

  • findAKUre

  • L’aim AKU

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Aktivitäten in der letzten Zeit in der Gemeinschaft Alkaptonurie (AKU)

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    another brother or sister for our son???
    topic, publiziert vor 14 Tage

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    Hello,
    I'm from Belgium.

    Our 6 year old son has alkaptonuria. We would like to give him and his sister (no AKU) another brother or sister. Is this something we can do?????? Or is this disease so bad that we can't choose for another child if there is a chance that he/she will get AKU as wel...

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    Searching for Jean-Luc
    topic, publiziert vor 15 Tage

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    On this site I read an article written by Jean-Luc form Belgium. Can anyone give me his emailadress?
    I'm from Belium as well and I would like to contact him.

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    New Website for AKU Patient group in Italy
    topic, publiziert vor 15 Tage

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    Sylvia Sestini, of the newly formed patient group for AKU in Italy, called Aim AKU, just announced their new website has been launched.

    Check it out here:
    http://www.aimaku.it/

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    Novel mutations in the homogentisate 1,2 dioxygenase gene identified in Jordanian patients with a...
    news, publiziert vor 25 Tage

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    Abstract

    This study was conducted to identify mutations in the homogentisate 1,2 dioxygenase gene (HGD) in alkaptonuria patients among Jordanian population. Blood samples were collected from four alkaptonuria patients, four carriers, and two healthy volunteers. DNA was isolated from periph...

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    Neue Webseite für die Suche nach klinischen Studien
    topic, publiziert vor 27 Tage

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    Das EU-Register für klinische Studien (https://www.clinicaltrialsregister.eu) ist gestern von der Europäischen Arzneimittelagentur gestartet worden. Das Onlineregister gibt zum ersten Mal öffentlichen Zugang zu Informationen über interventionelle klinische Studien für Arzneimittel, die in den 27 ...

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    Identifying Alkaptonuria (AKU) in the population at large Challenges and solutions
    document, publiziert vor 28 Tage

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    Poster in PDF

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    Impact of Alkaptonuria on Teeth
    topic, publiziert vor etwa 1 Monat

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    Hi,
    This question came in via the interweb:

    "What impact does AKU have on a person's teeth?"

    Does anyone have any insight or know where to find information on this topic?

    Thanks,
    Rob

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    Black aorta in a patient with alkaptonuria (ochronosis).
    news, publiziert vor etwa 1 Monat

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    J Cardiovasc Med (Hagerstown). 2011 Mar 16;

    Authors: Concistrè G, Fiorani B, Ranocchi F, Casali G, Loforte A, Musumeci F

    A rare cause of valvular heart disease is the deposition of foreign material in the valvular tissues, including material accumulating as a result of inborn er...

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    Living with Alkaptonuria
    topic, publiziert vor etwa 1 Monat

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    I learned I had Alkaptonuria when I was 16 yrs old. I was told I would develop arthritis at an early age. My first symptom other than diaper discoloration as a baby , was a greenish blue spot in both ears. By the age of 21 I was experiencing constant low back pain. Relocation 5 times in less th...

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    Husband feels for wife who has AKU........
    topic, publiziert vor etwa 1 Monat

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    I have wore the shoe's of the patient since 1996. I never realized that my husband suffered from the effects of AKU as well. One day my husband spoke up that we both have to deal with this disease. He told me how helpless he felt watching me suffer in pain. He replied, it is so frustrating not to...