Online Inherited Metabolic Disease

In 2021, MetabERN initiated a partnership with the Institute of Human Genetics in Innsbruck to create an electronic resource that offers structured information on various aspects of metabolic diseases. This includes:

The outcome of this collaboration is the Online IMD (Online-Inherited Metabolic Disease), a tool designed to engage MetabERN members and other metabolic specialists in both writing and updating the online content.

The OIMD (Online-Inherited Metabolic Disease, OIMD) project has been developed in collaboration with the Medical University of Innsbruck. At the helm is Prof. Johannes Zschocke, the director of the Institute of Human Genetics, who is also the author of the International Classification of Inherited Metabolic Disorders (ICIMD) and the renowned Vademecum Metabolicum. These resources are widely recognized for their comprehensive overview of inherited metabolic disorders (IMDs).

OIMD should represent an always-ready and easy-to-use electronic resource aimed to help and guide clinicians to make early diagnoses and decide on the right treatment to ultimately improve the prognosis of infants and children affected with IMDs. This resource is to be made available free of charge to all MetabERN members and, on behalf of MetabERN, to all professionals involved in patient care, research, and teaching regarding inherited metabolic disorders in Europe and beyond. In particular, it will be possible for people living and working in so-called low-income countries to benefit from the provision of the above-mentioned material.

The OIMD contains individual entries for all disorders listed in the ICIMD as well as relevant metabolic phenotypes and disease variants in a hierarchical disease group framework. This hierarchical, group-based collation of all currently known inherited metabolic disorders aims to facilitate an improved understanding of the interconnections between conditions that share functional, clinical and diagnostic features. The OIMD should help clinicians, scientists and other interested persons to find guidance through the large number of primary genetic conditions in which alteration of a biochemical pathway is intrinsic to specific biochemical, clinical and/or pathophysiological features.

The copyright of and OIMD is retained by the Inherited Disease Information and Classification Foundation (IDICF), a charitable organization located in Austria, founded for making the ICIMD/OIMD content available free of charge and protecting it from commercial exploitation.