title: Lethal cardiac tachyarrhythmia in a patient with neonatal carnitine-acylcarnitine translocase deficiency.
abstract: Carnitine-acylcarnitine translocase (CACT) deficiency is an inherited defect of the co-transport of free and esterified carnitine across the inner mitochondrial membrane. We report a case of CACT deficiency in a newborn who died at 72 h of age from severe, intractable cardiac tachyarrhythmia, despite an improvement in his neurological and biochemical status. Postmortem examination showed marked steatosis of myocardium, liver, and kidney. In addition, electron microscopic studies showed virtually complete elimination of mitochondria from cardiomyocytes. It appears that the correction of the acute metabolic derangements in this condition may not prevent rapid progression to death, suggesting that the rhythm disturbances in CACT deficiency result from prior and ongoing accumulation of toxic metabolites, rather than from an acute metabolic derangement. Furthermore, we speculate that the choice of anti-arrhythmic agent in this patient may paradoxically have contributed to his death.
authors.affiliation: Department of Pediatrics, Division of Neonatology, Hospital for Sick Children and University of Toronto, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada.
authors.forename: K
authors.initials: K
authors.lastname: Choong
authors.forename: J T
authors.initials: JT
authors.lastname: Clarke
authors.forename: E
authors.initials: E
authors.lastname: Cutz
authors.forename: R J
authors.initials: RJ
authors.lastname: Pollit
authors.forename: S E
authors.initials: SE
authors.lastname: Olpin
mesh_terms: D002332:Carnitine O-Acetyltransferase / Q000172:deficiency* / Q000235:genetics; D002478:Cells, Cultured; D017809:Fatal Outcome; D005227:Fatty Acids / Q000378:metabolism; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000201:enzymology / Q000473:pathology; D008064:Lipidoses / Q000235:genetics / Q000473:pathology; D008099:Liver / Q000201:enzymology / Q000473:pathology; D008297:Male; D008854:Microscopy, Electron; D008928:Mitochondria / Q000201:enzymology / Q000648:ultrastructure; D009206:Myocardium / Q000201:enzymology / Q000473:pathology; D015388:Organelles / Q000648:ultrastructure; D010084:Oxidation-Reduction; D017180:Tachycardia, Ventricular / Q000201:enzymology* / Q000473:pathology
chemical_list: D005227:Fatty Acids; D002332:Carnitine O-Acetyltransferase