#RareDiseaseDay takes place on the last day of February each year, aiming to raise awareness of research into rare diseases and how living with one impacts a person’s life. In Liverpool, Liverpool Clinical Laboratories are working on finding a treatment for a disease so rare, it affects just 66 people in the UK.

Alkaptonuria (AKU) or ‘black urine disease’ is an inherited disorder caused by a mutation of the gene homogentisate dioxygenase (HGD), affecting around one in 250,000 people.

It’s a lifelong condition and there’s currently no specific treatment or cure other than helping patients to manage the condition through pain medication and joint replacements. You can hear more from people living with AKU here.

The national Robert Gregory Alkaptonuria Centre was opened in 2012 to provide patients with access to a team of specialists who can help them manage their care and is based at The Royal Liverpool Hospital. Patients from all over the UK and Europe visit the centre each year for advice and guidance on living with AKU and to monitor the disease progress. Patients also receive the drug nitisinone, which is being researched as the first potential medication to stop the progression of the disease. Visit the AKU Society’s website to find out more about past and current clinical trials.

Help us to raise awareness of AKU on #RareDiseaseDay by watching a patient story, sharing our AKU factsheet or retweeting us on social media; @LplClinLabs.