Response of an Infant With Presumed Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

This case report describes an infant with a clinical and biochemical diagnosis of multiple acyl-CoA dehydrogenase deficiency (MADD) who received ketone supplementation. Severe cardiac dysfunction improved markedly, and near-normal cardiac function and biochemical profiles were sustained over 3.5 years. Genome sequencing did not identify causative variants, but RNA sequencing showed reduced ETFB transcript levels and western blot analysis showed decreased ETFB protein levels.