We are currently conducting research into treating nitisinone-induced hypertyrosinaemia¹ in partnership with a number of collaborators including the University of Liverpool.
Nitisinone is an extremely effective treatment which reduces homogentisic acid (HGA) by 99%², effectively halting the features of AKU. However, it is not a perfect treatment or cure. It leads to elevated levels of the amino acid tyrosine in a condition known as hypertyrosinaemia. This is a potentially serious condition which can cause blindness, skin rashes, and possibly cognitive development in children if a protein restricted diet is not followed. Due to the safety concerns of nitisinone, nitisinone is only prescribed from the age of 16 onwards in the UK and patients are advised and supported to follow a protein restricted diet.
We hope that a tyrosine reduction co-therapy could be used alongside nitisinone which would end the current restrictions currently placed on patients and potentially facilitate children under 16 years to begin nitisinone treatment.