glutaricaciduria type II

a genetically heterogeneous disorder due to deficiencies in the electron transport system, characterized by accumulation and excretion of glutaric and 2-hydroxyglutaric acids as well as multiple organic acids normally oxidized by mitochondrial flavin-containing acyl-CoA dehydrogenases, which require both proteins for activity. It is caused by defects in any of three proteins: the α- or the β- subunit of electron transfer flavoprotein or electron transfer flavoprotein:ubiquinone oxidoreductase. There are three subtypes, designated A, B, and C, based on the genetic defect involved. Additional manifestations include hypoglycemia without ketosis, metabolic acidosis, and a spectrum of phenotypic manifestations varying in severity, which is inversely correlated with increasing age of onset. When of neonatal onset it may be accompanied by congenital anomalies and is rapidly fatal. Called also multiple acyl CoA dehydrogenation deficiency.