Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app.

ABSTRACT:

Background

The Treatable ID App was created in 2012 as digital tool to improve early recognition and intervention for treatable inherited metabolic disorders (IMDs) presenting with global developmental delay and intellectual disability (collectively 'treatable IDs'). Our aim is to update the 2012 review on treatable IDs and App to capture the advances made in the identification of new IMDs along with increased pathophysiological insights catalyzing therapeutic development and implementation.

Methods

Two independent reviewers queried PubMed, OMIM and Orphanet databases to reassess all previously included disorders and therapies and to identify all reports on Treatable IDs published between 2012 and 2021. These were included if listed in the International Classification of IMD

SUBMITTER: Hoytema van Konijnenburg EMM 

PROVIDER: S-EPMC8042729 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature