Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life - 09/09/11
Abstract |
Objective: Fatty acid oxidation (FAO) disorders are frequently reported as the cause of sudden and unexpected death, but their postmortem recognition remains difficult. We have devised a biochemical protocol in which informative findings in liver tissue are microvesicular steatosis, elevated concentrations of C8-C16 fatty acids, glucose depletion, and low carnitine concentration. Study design: We analyzed 27 cases representing five FAO disorders and compared the results with those obtained in a retrospective blinded analysis of 418 cases of sudden infant death (313 SIDS, 45 infections, and 34 accidents and abuse). Results: All cases of accidents and abuse correctly tested negative. Among the others, 25 (6%) showed at least two abnormal findings. Of these, 14 closely matched the biochemical profiles seen in specific FAO disorders. These included 2 cases with medium-chain acyl-CoA dehydrogenase deficiency, 4 cases consistent with glutaric acidemia type 2, 4 cases with either very long-chain acyl-coenzyme A dehydrogenase deficiency or long-chain 3-hydroxy-acyl-coenzyme A dehydrogenase deficiency, and 4 cases predicted to be affected with carnitine uptake defect. Conclusion: The results of this study support the view that approximately 5% of all cases of sudden infant death are likely caused by an FAO disorder. (J Pediatr 1998;132:924-33.)
Le texte complet de cet article est disponible en PDF.Abbreviations : CUD, FAO, GA2, LCHAD, MCAD, SIDS, VLCAD
Plan
From the Department of Genetics and Pathology, Yale University School of Medicine, New Haven, Connecticut; the Division of Human Genetics, Department of Pediatrics, University of Maryland School of Medicine, Baltimore; and the Office of the Chief Medical Examiner of the State of Maryland, Baltimore. |
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Dr. Boles is currently affiliated with the Division of Medical Genetics, Children's Hospital Los Angeles, and the Department of Pediatrics, University of Southern California School of Medicine, Los Angeles, California. |
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Reprint requests: Piero Rinaldo, MD, Yale University School of Medicine, Department of Genetics, Room WWW-313, 333 Cedar St., P.O. Box 208005, New Haven, CT 06520-8005. |
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9/21/87379 |
Vol 132 - N° 6
P. 924-933 - juin 1998 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
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