title: Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype.
abstract: Medium chain acyl CoA dehydrogenase deficiency (MCAD) is the most common inborn error of fatty acid oxidation. This condition may lead to cellular energy shortage and cause severe clinical events such as hypoketotic hypoglycemia, Reye syndrome and sudden death. MCAD deficiency usually presents around three to six months of life, following catabolic stress as intercurrent infections or prolonged fasting, whilst neonatal-onset of the disease is quite rare. We report the case of an apparently healthy newborn who suddenly died at the third day of life, in which the diagnosis of MCAD deficiency was possible through peri-mortem blood-spot acylcarnitine analysis that showed very high concentrations of octanoylcarnitine. Genetic analysis at the ACADM locus confirmed the biochemical findings by demonstrating the presence in homozygosity of the frame-shift c.244dup1 (p.Trp82LeufsX23) mutation, a severe genotype that may explain the unusual and very early fatal outcome in this newborn. This report confirms that inborn errors of fatty acid oxidation represent one of the genetic causes of sudden unexpected deaths in infancy (SUDI) and underlines the importance to include systematically specific metabolic screening in any neonatal unexpected death.
authors.affiliation: Department of Pediatrics, University of Torino, Regina Margherita Children's Hospital, Torino, Italy.
authors.forename: Cristina
authors.initials: C
authors.lastname: Lovera
authors.forename: Francesco
authors.initials: F
authors.lastname: Porta
authors.forename: Anna
authors.initials: A
authors.lastname: Caciotti
authors.forename: Serena
authors.initials: S
authors.lastname: Catarzi
authors.forename: Michela
authors.initials: M
authors.lastname: Cassanello
authors.forename: Ubaldo
authors.initials: U
authors.lastname: Caruso
authors.forename: Maria Rita
authors.initials: MR
authors.lastname: Gallina
authors.forename: Amelia
authors.initials: A
authors.lastname: Morrone
authors.forename: Marco
authors.initials: M
authors.lastname: Spada
mesh_terms: D042964:Acyl-CoA Dehydrogenase / Q000172:deficiency / Q000235:genetics; D003241:Consanguinity; D017809:Fatal Outcome; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics*; D013398:Sudden Infant Death
chemical_list: D042964:Acyl-CoA Dehydrogenase