treatable-ID

treatable-ID facilitates identification and prioritization of treatable inborn errors of metabolism (IMDs) associated with global developmental delay and intellectual disability (ID) to guide early diagnostic and therapeutic decision-making.

Key Features:

• Comprehensive database: Contains 116 treatable IDs across 139 genes categorized into 17 International Classification of IMDs (ICIMD) categories.
• Diagnostic algorithm: Incorporates an adjustable algorithm that prioritizes treatable IDs based on local resources and expertise.
• Therapeutic interventions: Catalogs treatments including nutritional interventions, pharmacological therapies, and vitamin and trace element supplementation.
• Evidence-based annotations: Assigns evidence levels 1–5 to treatments, with 19% supported by levels 1–3 (trials, cohort, case-control) and 81% by levels 4–5 (case reports or expert opinion), and reports outcome data (clinical deterioration 62%, neurological manifestations 47%, developmental progress 37%).
• Disease-level annotations: Provides per-disease information on genetics, biochemistry, phenotype, diagnostic tests, and therapeutic options.
• Curation and evidence aggregation: Updates content using expert input and PubMed searches to incorporate new conditions and evidence.
• Research integration: Aligns with the Treatabolome and International Rare Diseases Research Consortium (IRDiRC) and supports a protocol prioritizing treatability in the work-up of children with global developmental delay/ID.

Scientific Applications:

• Diagnostic prioritization: Prioritizes treatable IMDs in the differential diagnosis of children with global developmental delay or intellectual disability.
• Guiding investigations and therapy: Informs selection of targeted diagnostic tests and therapeutic interventions for suspected treatable metabolic disorders.
• Evidence synthesis for rare diseases: Aggregates and annotates clinical evidence to support decision-making for rare metabolic conditions and integration into broader Treatabolome/IRDiRC efforts.

Methodology:

Curates a database of treatable IMDs and per-disease annotations; assigns evidence levels 1–5 based on trials, cohort and case-control studies, case reports, and expert opinion; and implements an adjustable diagnostic algorithm; content updates via expert input and PubMed searches.