Milad Khedr, Maggie S Cooper, Andrew T Hughes, Anna M Milan, Andrew S Davison, Brendan P Norman, Hazel Sutherland, Jonathan C Jarvis, Richard Fitzgerald, Louise Markinson, Eftychia-Eirini Psarelli, Parisa Ghane, Nicolaas E P Deutz, James A Gallagher, Lakshminarayan R Ranganath
For over two decades, nitisinone (NTBC) has been successfully used to manipulate the tyrosine degradation pathway and save the lives of many children with hereditary tyrosinaemia type 1. More recently, NTBC has been used to halt homogentisic acid accumulation in alkaptonuria (AKU) with evidence suggesting its efficacy as a disease modifying agent. NTBC-induced hypertyrosinaemia has been associated with cognitive impairment and potentially sight-threatening keratopathy. In the context of a non-lethal condition (ie, AKU), these serious risks call for an evaluation of the wider impact of NTBC on the tyrosine pathway...
September 2020: Journal of Inherited Metabolic Disease