The SSIEM (Society For The Study Of Inborn Errors Of Metabolism) have released Version 2.0.0 of their 'IEMbase - Inborn Errors of Metabolism Knowledgebase' website.
The latest version includes detailed information on nearly 1600 different disorders, covering over 3600 different clinical and biochemical signs and symptoms.
In addition to the website version (linked here), a mobile App for iOS and Android is available from the Apple iOS app store , or the Google Play App Store store free of charge.
IEMbase is freely available here and offers:
- Easy browsing through IEMs
- Simple search for any IEM or term
- Mini-expert system to search for a combination of clinical symptoms and biochemical markers and their deviations
- Differential diagnosis (DDx) panel
- Biochemical tests panel
- Gene panel
- Disorder information, incl. external links (e.g., OMIM, Orpha code, HMDB etc.)
- Age-related clinical symptoms
- Age-related biochemical markers
- Gene information, incl. external links
- WikiPathways (not available for all disorders yet)
- Educational documents (PDFs, videos), not available for all disorders yet
- Gamut tables of all issues of Clinical and Biochemical Footprints of Inherited Metabolic Diseases.
Further information about the database and the expert panel that curates it can be found here.
