Summary Literature (0)

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: MAD deficiency, MADD, electron transfer flavoprotein deficiency, electron transfer flavoprotein ubiquinone oxidoreductase deficiency, glutaric acidemia type 2, glutaric aciduria type 2,

Echinobase Genes : etfb, etfdh


OMIM:

MIM:231680 - multiple acyl-coa dehydrogenase deficiency; madd

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee