DDIEM: drug database for inborn errors of metabolism.
Orphanet J Rare Dis
; 15(1): 146, 2020 06 11.
Article
em En
| MEDLINE
| ID: mdl-32527280
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.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Bases de Dados de Produtos Farmacêuticos
/
Erros Inatos do Metabolismo
Limite:
Humans
Idioma:
En
Revista:
Orphanet J Rare Dis
Assunto da revista:
MEDICINA
Ano de publicação:
2020
Tipo de documento:
Article