Document Detail

Lethal cardiac tachyarrhythmia in a patient with neonatal carnitine-acylcarnitine translocase deficiency.
MedLine Citation:
PMID:  11826365     Owner:  NLM     Status:  MEDLINE    
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.
K Choong; J T Clarke; E Cutz; R J Pollit; S E Olpin
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society     Volume:  4     ISSN:  1093-5266     ISO Abbreviation:  Pediatr. Dev. Pathol.     Publication Date:    2001 Nov-Dec
Date Detail:
Created Date:  2002-02-04     Completed Date:  2002-03-21     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9809673     Medline TA:  Pediatr Dev Pathol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  573-9     Citation Subset:  IM    
Department of Pediatrics, Division of Neonatology, Hospital for Sick Children and University of Toronto, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada.
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MeSH Terms
Carnitine O-Acetyltransferase / deficiency*,  genetics
Cells, Cultured
Fatal Outcome
Fatty Acids / metabolism
Fibroblasts / enzymology
Infant, Newborn
Kidney / enzymology,  pathology
Lipidoses / genetics,  pathology
Liver / enzymology,  pathology
Microscopy, Electron
Mitochondria / enzymology,  ultrastructure
Myocardium / enzymology,  pathology
Organelles / ultrastructure
Tachycardia, Ventricular / enzymology*,  pathology
Reg. No./Substance:
0/Fatty Acids; EC O-Acetyltransferase

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