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Treatable diseases should be prioritized in the diagnostic work-up of any individual with Intellectual Disability. Early diagnosis & treatment improves outcomes.
Our review has revealed 81 such treatable conditions…With new knowledge & technology the list is expanding continuously.
What is Treatable-ID.org?
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.The diseases are presented on this website as an interactive tool for the clinician and scientist, both expert and trainee.
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 designed 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. Start the tool via the menu on the top of this page
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Frequently Asked Questions on Intellectual Disability