The Robert Gregory National Alkaptonuria Centre (NAC) at the Royal Liverpool University Hospital was established in 2012 by the NHS National Specialised Services Commissioning Group to provide treatment, assessments and support for patients diagnosed with the rare genetic disorder, Alkaptonuria (AKU).
AKU is also known as Black Bone Disease as the condition causes patient’s bones to turn black in colour due to a build-up of acid. This also causes the bones to turn brittle and leads to severely debilitating osteoarthritis, heart disease, and other serious health complications.
AKU causes considerable morbidity in the peak of adulthood due to severe premature destruction of the joints and spine. Often patients can become severely disabled after the age of 30.
Our centre provides an outpatient-based assessment service for patients with AKU where they are reviewed annually. We provide the following pathway for our patients:
- Assess and detect disease complications
- Prescribe nitisinone to arrest the progression of the disease
- Formulate shared care management plans with local providers
You will generally be referred via your GP and will be expected to have a definite diagnosis of AKU prior to referral to NAC.
All referrals will be received and assessed for suitability and urgency of referral by our NAC team. Following this assessment you will be invited to attend the NAC.
If you are under the age of 16, you will be excluded for assessment from the NAC.
If you are pregnant or under the age of 16, we are unable to provide treatment with nitisinone.
Royal Liverpool University Hospital
Address: Royal Liverpool University Hospital