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 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.
AKU is a recessive condition that is caused by a mutation of each of a pair of chromosomes, this means that if two people carry the faulty gene, their child still only has a 25% chance of developing AKU.
AKU SYMPTOMS
Osteoarthritis
Every AKU patient will experience joint pain at some point in their lives....
Black Spots in Eyes
AKU patients start to develop black spots in the whites of their eyes as they get older…
Discolouration of Ears
The ears of most AKU patients will eventually begin to develop a blue-black colour…
An introduction to alkaptonuria and nitisinone