title: Neonatal ventricular tachyarrhythmias in medium chain acyl-CoA dehydrogenase deficiency.
abstract: We describe an unusually severe case of medium chain acyl-CoA dehydrogenase (MCAD) deficiency in a term female neonate, who presented at 12 h of age with lethargy, poor feeding, hypoglycemia and ventricular tachyarrhythmias. While arrhythmias are common in other disorders of fatty acid beta-oxidation, ventricular tachyarrhythmias have rarely been reported with MCAD deficiency in childhood. Since the results of newborn metabolic screening are usually not available within the first 3 days of life, our case highlights the need for health care professionals to be made aware of this early and uncommon but potentially fatal presentation of MCAD deficiency.
authors.affiliation: Department of Pediatrics, Alberta Children's Hospital Research Institute of Child and Maternal Health, Faculty of Medicine, University of Calgary, Calgary, Alberta, Canada. kyusuf@ucalgary.ca
authors.forename: Kamran
authors.initials: K
authors.lastname: Yusuf
authors.forename: Junya
authors.initials: J
authors.lastname: Jirapradittha
authors.forename: Harish J
authors.initials: HJ
authors.lastname: Amin
authors.forename: Weiming
authors.initials: W
authors.lastname: Yu
authors.forename: Shabih U
authors.initials: SU
authors.lastname: Hasan
mesh_terms: D042964:Acyl-CoA Dehydrogenase / Q000172:deficiency; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis; D015997:Neonatal Screening; D017180:Tachycardia, Ventricular / Q000150:complications* / Q000151:congenital* / Q000175:diagnosis
chemical_list: D042964:Acyl-CoA Dehydrogenase