Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life,☆☆,,★★

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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.)

Abbreviations

CUD
Carnitine uptake defect
FAO
Fatty acid oxidation
GA2
Glutaric acidemia type 2
LCHAD
Long-chain 3-hydroxy acyl-coenzyme A dehydrogenase
MCAD
Medium-chain acyl-coenzyme A dehydrogenase
SIDS
Sudden infant death syndrome
VLCAD
Very long-chain acyl-coenzyme A dehydrogenase

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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.

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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