Alkaptonuria Explained

 

Alkaptonuria, also known as AKU or Black Bone Disease, is an extremely rare genetic condition, which can cause significant damage to the bones, cartilage and tissues of those affected. AKU normally only affects one in every 250,000 people worldwide. AKU is a recessive condition that is caused by a mutation of one chromosome, this means that if two people carry the faulty gene, their child still only has a 25% chance of developing AKU. 

AKU stops patients' bodies from breaking down a chemical called homogentisic acid (HGA) which the body naturally produces during the digestion of food. Due to this, HGA builds up in the body and, over time, leads to black and brittle bones and cartilage, and early onset osteoarthritis. The build up of HGA in the body can also lead to other, sometimes more serious health complications.1 

Please click below to find more in-depth explanations of the symptoms of AKU

 

 

 



AKU Twitter

AKU Blog

Findacure Firewalk for AKU! A New Exciting Fundraising Opportunity.
18-Jan-2017

On 18th February the AKU Society will be taking part in the Findacure Cambridge Firewalk! Firewa.. ...more

Looking Forward to 2017
04-Jan-2017

With Christmas all but over and the New Year well underway, we take a look at all the exciting p.. ...more

2016 In Review
13-Dec-2016

Now that 2016 is finally drawing to an end, we thought it would be a good opportunity t.. ...more

Introducing Robin, Our New Admin and Events Officer
07-Dec-2016

Last week, we welcomed Robin, to the AKU Society team! As our new Admin and Events Officer, he w.. ...more

The AKU Society’s International Garrod Day Coffee Morning
30-Nov-2016

November the 25th is an important day in The AKU Society’s calendar. On this day, we celebrate G.. ...more