EP029: Response of an infant with presumed type II multiple Acyl-CoA dehydrogenase deficiency to ketone supplementation

Abstract

Multiple acyl-CoA dehydrogenase deficiency (MADD) type II has neonatal onset without congenital anomalies. In those who survive the neonatal period, recurrent metabolic decompensation and hypertrophic cardiomyopathy can occur. Deficiency of the electron transfer flavoprotein (ETF alpha and beta subunits, ETFA and ETFB) or the ETF flavin adenine dinucleotide (FAD)-dependent dehydrogenase (ETFDH) negatively impacts electron transfer in the mitochondria which subsequently affects fatty acid oxidation (FAO) and the metabolism of some amino acids.