Treatable Intellectual Disability

an interactive tool for the clinician

Start the tool via the menu above

Treatable diseases should be prioritized in the diagnostic work-up of any individual with Intellectual Disability. Early diagnosis & treatment improves outcomes.
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Treatable-ID on mobile devices

When you visit this website from any mobile device or tablet you will access a mobile version of the app.
Additionally you can download the Treatable ID app for iPhone or iPad from the Apple App Store free of charge.

What is

A systematic literature review, performed by Dr. Clara van Karnebeek & Dr. Sylvia Stöckler in B.C. Children's Hospital (Vancouver, Canada) identified 81 inborn errors of metabolism which are causally related to Intellectual Disability and amenable to therapy.
These diseases are presented on this website as an interactive tool for the clinician and scientist, both expert and trainee.
Start the tool via the menu on the top of this page

How does it work?

The information is presented in several different ways: ranging from the biochemical categories, signs & symptoms, diagnostic tests, to therapies & evidence. For each condition a disease page has been created as information portal with access to specific genetics, biochemistry, phenotype, diagnostic tests and therapeutic options. Online Resources include: OMIM, Gene Reviews, Orphanet, Online Scriver, Gene Cards, journal articles, clinical trials, and patient resource websites.
Our review has revealed 81 treatable conditions…With new knowledge & technology the list is expanding continuously.
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Featured Articles

This tool is based on a systematic literature review and has been published in "Molecular Genetics and Metabolism" in March 2012.
The Orphanet Journal of Rare Diseases has published an article on this tool. Click here to access.

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