DDIEM: Drug Database for Inborn Errors of Metabolism

Abstract

Background: Inborn errors of metabolism (IEM) represent a subclass of rare inherited diseases caused by a wide range of defects in metabolic enzymes or their regulation. Of over a thousand characterized IEMs, only about half are understood at the molecular level, and overall the development of treatment and management strategies has proved challenging. An overview of the changing landscape of therapeutic approaches is helpful in assessing strategic patterns in the approach to therapy, but the information is scattered throughout the literature and public data resources.Results: We gathered data on therapeutic strategies for 299 diseases into the Drug Database for Inborn Errors of Metabolism (DDIEM). Therapeutic approaches, including both successful and ineffective treatments, were manually classified by their mechanisms of action using a new ontology.Conclusions: We present a manually curated, ontologically formalized knowledgebase of drugs, therapeutic procedures, and mitigated phenotypes. DDIEM is freely available through a web interface and for download at http://ddiem.phenomebrowser.net.

DDIEM: drug database for inborn errors of metabolism

“…DDIEM content is accessible through a website as well as through a public SPARQL end-point to enable computational access. DDIEM data is also downloadable, and each release of the data is assigned a unique Digital Object Identifier (DOI) [59]. To make DDIEM content findable, we registered DDIEM on the FAIRsharing platform [60] and the DDIEM ontology in several ontology repositories.…”

Child and Adolescent Psychiatrists’ Use, Attitudes, and Understanding of Genetic Tests in Clinical Practice

“…Genetic testing is currently part of the standard of care in the evaluation of children and adults for some neuropsychiatric conditions, including autism spectrum disorder (ASD) [7][8][9] and intellectual and developmental disorders (IDD) 9,10 , where results can impact subsequent medical decision making 9,11,12 ; (e.g. detecting inborn errors of metabolism can lead to specific treatments 13 , and genetic diagnoses can trigger screening and follow up for associated medical conditions 9,12 . Numerous professional organizations recommend genetic testing to evaluate ASD, but implementation remains low 11,14,15 .…”

Carglumic acid in methylmalonic acidemia: Use of breast milk as an alternative vehicle to water

“…In the recent years, research and development of orphan drugs has gained attention in Europe; however, limited evidence is available regarding their use in clinical practice in some cases 1 . Carglumic acid or N‐carbamylglutamate (NCG) is designated as an orphan drug in Europe and the United States 2 .…”

“…In the recent years, research and development of orphan drugs has gained attention in Europe; however, limited evidence is available regarding their use in clinical practice in some cases. 1 Carglumic acid or N-carbamylglutamate (NCG) is designated as an orphan drug in Europe and the United States. 2 It is a structural analog of N-acetylglutamate, which is the natural activator of carbamylphosphate synthetase 1 (CFS1), the first enzyme of the urea cycle.…”