Journal Article

First decade anniversary of the United Kingdom National Alkaptonuria Centre

Gallagher, Jim A., Ranganath, Lakshminarayan R., Khedr, Milad, Sireau, Nick, Bou‐Gharios, George

2023

Overview

Dear editor, On April 1st 2012, NHS England Highly Specialised Services (HSS) commissioned the National Alkaptonuria Service for adults in the Department of Clinical Biochemistry & Metabolic Medicine at the Royal Liverpool University Hospital. 1 The service is called the Robert Gregory National Alkaptonuria Centre (NAC) in memory of the alkaptonuria (AKU) patient who founded the Alkaptonuria Society (AKUS) in 2003.The AKUS is embedded in the NAC and crucial to its functioning and success, ensuring patients are at the centre of the service. The NAC has generated new knowledge about AKU and its management (Table S1); with a few examples being prevalent cataract before and after nitisinone, nitisinone-associated vitiligo, characterising spine and joint disease and demonstrating lack of cognitive impairment during nitisinone therapy of adults with AKU. 8–11 The NAC permitted research collaboration between the NAC and the University of Liverpool, allowing cutting edge research into AKU to be pioneered and carried out with examples including development of conditional mouse models of AKU including liver and kidney knockouts in which new therapies are tested such as tyrosine-reducing therapies, as well as enzyme replacement therapies involving gene and mRNA administration. 12 A new mechanism of joint damage in AKU was developed and found to apply in osteoarthritis. 13 Unachieved goals and further challenges: [...]we have developed an assay system using the MitraTM sampling device, which offers a more user-friendly and robust alternative. 14 Preliminary feedback from patients has been positive and we are in the process of integrating this into the patient pathway.

• Publisher: John Wiley & Sons, Inc,Wiley
• Subject: Collaboration / Conflicts of interest / Drug dosages / Letter to the Editor / Patients / Pediatrics