Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app.
Eva M M Hoytema van KonijnenburgSaskia B WortmannMarina J KoelewijnLaura A TsengRoderick HoubenSylvia Stöckler-IpsirogluCarlos R FerreiraClara D M van KarnebeekPublished in: Orphanet journal of rare diseases (2021)
The number of treatable IDs identified by our literature review increased by more than one-third in eight years. Although there has been much attention to gene-based and enzyme replacement therapy, the majority of effective treatments are nutritional, which are relatively affordable, widely available and (often) surprisingly effective. We present a diagnostic algorithm (adjustable to local resources and expertise) and the updated App to facilitate a swift and accurate workup, prioritizing treatable IDs. Our digital tool is freely available as Native and Web App (www.treatable-id.org) with several novel features. Our Treatable ID endeavor contributes to the Treatabolome and International Rare Diseases Research Consortium goals, enabling clinicians to deliver rapid evidence-based interventions to our rare disease patients.