multiple acyl-CoA dehydrogenase deficiency Disease Ontology Browser

Disease Ontology Browser

multiple acyl-CoA dehydrogenase deficiency (DOID:0060358)
Alliance: disease page
Synonyms: electron transfer flavoprotein deficiency; electron transfer flavoprotein ubiquinone oxidoreductase deficiency; glutaric acidemia type 2; glutaric aciduria type 2; MAD deficiency; MADD
Alt IDs: OMIM:231680, ICD10CM:E71.313, MESH:D054069, NCI:C84907, ORDO:26791, UMLS_CUI:C0268596, UMLS_CUI:C1856401, UMLS_CUI:C1856403, UMLS_CUI:C1856405
Definition: An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has_material_basis_in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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