Inherited metabolic disorders (IMDs) are individually rare, which can make it challenging to get the IMD voice heard across diagnosis, care, and policy. However, collectively they represent a substantial and under-characterised group of conditions.

Despite their number, the overall scale and impact of IMDs within the rare disease landscape, theirburden on healthcare systems and their overall mortality rate remain unclear.

This study aimed to quantify IMDs as a whole: specifically, the proportion of rare diseases that are IMDs and to estimate mortality attributable to IMDs across EU-5 countries. The poster below summarises the results of this study: