About AKU

The AKU Guide for Rare Disease Patient Groups is a free service provided by the AKU Society for all rare disease groups around the world.

AKU (short for Alkaptonuria) is a rare genetic disease affecting one in 250,000 people. It is called Black Bone Disease because bones turn black and brittle (see the picture below of an elbow joint), causing severe, chronic disability and pain. It has a serious impact on the heart, especially the aortic and mitral valves. Ochronotic granules cause valves to calcify. Pigment deposits lead to the formation of atherosclerotic plaques (hard spots in arteries) containing cholesterol and fat.

Other problems include prostate stones, black spots on the eyes, and hearing loss (the small veins of the ear are affected). Heavy pigment deposits in the cartilage of the larynx (voice box), the trachea (windpipe), and the bronchi (air passages to the lungs) are common.

The AKU Society is a patient group set up in 2003 in the UK by an AKU patient called Robert Gregory and a Clinician at the Royal Liverpool University Hospital called Dr L Ranganath. It is growing fast and is now an international group with 651 patients in more than 30 countries.

It has registered affiliates in France, Italy, North America, Jordan and Slovakia (the last two countries where the incidence of AKU is 12 times higher). It works closely with scientists and clinicians in Liverpool in a rapidly expanding research centre that includes a world-class team, with which it launched the international findAKUre network. The AKU Society exists to improve the lives of AKU patients by providing them with information and support and by funding research into treatments.

AKU was the first metabolic disease ever discovered, in 1901 by Dr Archibald Garrod in London. As such, it represents the birth of modern metabolic medicine and hence has an iconic place in the medical history books. It was the first disease to be shown to have Mendellian properties of inheritance, a reference to Gregor Mendel, the Austrian monk and scientist who became famous after his death for the work he carried out on the theory of genes through studying the reproduction of peas.

We believe that the study of AKU – scientifically, clinically, sociologically and psychologically – has significant implications for understanding the thousands of other rare diseases out there.

To find out more, go to the website of the AKU Society at www.alkaptonuria.info.