title: Prolonged QTc interval in association with medium-chain acyl-coenzyme A dehydrogenase deficiency.
abstract: Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency is the most common disorder of mitochondrial fatty acid oxidation. We report a term male infant who presented at 3 days of age with hypoglycemia, compensated metabolic acidosis, hypocalcemia, and prolonged QTc interval. Pregnancy was complicated by maternal premature atrial contractions and premature ventricular contractions. Prolongation of the QTc interval resolved after correction of metabolic derangements. The newborn screen was suggestive for MCAD deficiency, a diagnosis that was confirmed on genetic analysis that showed homozygosity for the disease-associated missense A985G mutation in the ACADM gene. This is the first report of acquired prolonged QTc in a neonate with MCAD deficiency, and it suggests that MCAD deficiency should be considered in the differential diagnoses of acute neonatal illnesses associated with electrocardiographic abnormality. We review the clinical presentation and diagnosis of MCAD deficiency in neonates.
authors.affiliation: Perinatal Institute, Division of Neonatology;
authors.forename: Jason R
authors.initials: JR
authors.lastname: Wiles
authors.affiliation: Division of Human Genetics;Department of Pediatrics; and.
authors.forename: Nancy
authors.initials: N
authors.lastname: Leslie
authors.affiliation: Department of Pediatrics; andThe Heart Institute, University of Cincinnati College of Medicine and Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
authors.forename: Timothy K
authors.initials: TK
authors.lastname: Knilans
authors.affiliation: Perinatal Institute, Division of Neonatology;Department of Pediatrics; and henry.akinbi@cchmc.org.
authors.forename: Henry
authors.initials: H
authors.lastname: Akinbi
mesh_terms: D042964:Acyl-CoA Dehydrogenase / Q000172:deficiency* / Q000235:genetics; D003937:Diagnosis, Differential; D026261:Diazepam Binding Inhibitor / Q000235:genetics; D004562:Electrocardiography; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics; D008133:Long QT Syndrome / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D020125:Mutation, Missense / Q000235:genetics; D015997:Neonatal Screening
chemical_list: D026261:Diazepam Binding Inhibitor; D042964:Acyl-CoA Dehydrogenase
keywords: MCAD; medium-chain acyl-coenzyme A dehydrogenase deficiency; neonate; prolonged QT