The Society was founded in 1973 by new parents Brian and Sylvia Smith. They arranged for an announcement over BBC Radio 2 on Jimmy Young's programme calling for people interested in forming a Society for Phenylketonuria. A small number of families attended the first meeting which got the Society under way.

In the early 70s the dietary treatment for PKU was less well developed. In the formative years, hospital dietitians worked voluntarily for NSPKU to produce the first food exchange lists used as the basis for dietary treatment.

The food lists produced by NSPKU are still an essential part of dietary treatment for PKU. They are relied upon by hospitals across the UK. NSPKU has retained a specialist dietitian since 1983.

NSPKU became a founding member of the European Society for Phenylketonuria and Allied Disorders (ESPKU) on 4th October 1987. The ESPKU co-ordinates the campaign for an improved quality of life for all people living with PKU across Europe.

NSPKU have also funded many early research projects which laid the foundations for subsequent advances in care and understanding for PKU.

As we approach our 50th Anniversary, the achievements of those trailblazing families who founded the charity in the pre-internet age must be celebrated and continued.  NSPKU is still at the forefront of efforts to improve the lives of people with PKU.