Hypertyrosinaemia

Hypertyrosinaemia We are currently conducting research into treating nitisinone-induced hypertyrosinaemia in partnership with a number of collaborators including the University of Liverpool. Nitisinone is an extremely effective treatment which reduces homogentisic...

Diagnosis

Diagnosis The diagnosis of AKU is made upon the identification of characteristic symptoms, patient history, and clinical evaluation. Identification of elevated levels of homogentisic acid (HGA) in the urine is indicative of AKU. AKU should be suspected of all...

Treatment

Treatment AKU can be treated using the drug nitisinone. Our seven year DevelopAKUre study, which concluded in 2020, illustrated nitisinone effectively halts the build of homogentisic acid (HGA) by 99%. Nitisinone received a marketing authorisation from the European...

Our Funders

Our Funders We would like a say a huge thank you to the trusts and foundations below for supporting our work. The National Lottery Community Fund Funding for our Body to Mind Programme & our 2021 International Patient Workshop Seventh Framework Programme...

Impact Reports

Impact Reports We produce annual impact reports to highlight the work we have done over the past year and to ensure that we continue to provide the highest level of care and support for our patients whilst driving forward research into treating and curing AKU. Our...