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DOID:0060358 - multiple acyl-CoA dehydrogenase deficiency
Disease Ontology 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.
Synonyms: electron transfer flavoprotein deficiency, electron transfer flavoprotein ubiquinone oxidoreductase deficiency, glutaric acidemia type 2, glutaric aciduria type 2, MADD, MAD deficiency
Xenbase Genes
:
etfa,
etfb,
etfdh
| MONDO:0009282 - multiple acyl-CoA dehydrogenase deficiency |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee