DDIEM: drug database for inborn errors of metabolism

Marwa Abdelhakim, Eunice McMurray, Ali Raza Syed, Senay Kafkas, Allan Kamau, Paul N Schofield, Robert Hoehndorf

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

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 300 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.
Original languageEnglish (US)
JournalOrphanet Journal of Rare Diseases
Volume15
Issue number1
DOIs
StatePublished - Jun 11 2020

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