Multiple Acyl-CoA Dehydrogenase Deficiency

Multiple acyl-CoA dehydrogenase deficiency (MADD), also known as glutaric acidemia or glutaric aciduria type II, can be caused by mutations in three different genes (ETFA, ETFB, ETFDH), which are all involved in electron transfer in the mitochondrial respiratory chain. In most patients MADD is caused by mutations in the ETFDH gene (Table 63.1), encoding the electron transfer flavoprotein dehydrogenase. MADD results in large excretion of glutaric, lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids.