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Articles |
1 Neo Gen Screening, PO Box 219, Bridgeville, PA 15017.
aAuthor for correspondence. Fax 412-220-0784; e-mail dhchace{at}neogenscreening.com.
Background: Deaths from inherited metabolic disorders may remain undiagnosed after postmortem examination and may be classified as sudden infant death syndrome. Tandem mass spectrometry (MS/MS) may reveal disorders of fatty acid oxidation in deaths of previously unknown cause.
Methods: We obtained filter-paper blood from 7058 infants from United States and Canadian Medical Examiners. Acylcarnitine and amino acid profiles were obtained by MS/MS. Specialized interpretation was used to evaluate profiles for disorders of fatty acid, organic acid, and amino acid metabolism. The analyses of postmortem blood specimens were compared with the analyses of bile specimens, newborn blood specimens, and specimens obtained from older infants at risk for metabolic disorders.
Results: Results on 66 specimens suggested diagnoses of metabolic disorders. The most frequently detected disorders were medium-chain and very-long-chain acyl-CoA dehydrogenase deficiencies (23 and 9 cases, respectively), glutaric acidemia type I and II deficiencies (3 and 8 cases, respectively), carnitine palmitoyl transferase type II/translocase deficiencies (6 cases), severe carnitine deficiency (4 cases), isovaleric acidemia/2-methylbutyryl-CoA dehydrogenase deficiencies (4 cases), and long-chain hydroxyacyl-CoA dehydrogenase/trifunctional protein deficiencies (4 cases).
Conclusions: Postmortem metabolic screening can explain deaths in infants and children and provide estimates of the number of infant deaths attributable to inborn errors of metabolism. MS/MS is cost-effective for analysis of postmortem specimens and should be considered for routine use by Medical Examiners and pathologists in unexpected/unknown infant and child death.
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D. Matern, M. He, S. A. Berry, P. Rinaldo, C. B. Whitley, P. P. Madsen, S. C. van Calcar, R. C. Lussky, B. S. Andresen, J. A. Wolff, et al. Prospective Diagnosis of 2-Methylbutyryl-CoA Dehydrogenase Deficiency in the Hmong Population by Newborn Screening Using Tandem Mass Spectrometry Pediatrics, July 1, 2003; 112(1): 74 - 78. [Abstract] [Full Text] [PDF]
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D. A. Klose, S. Kolker, B. Heinrich, V. Prietsch, E. Mayatepek, R. von Kries, and G. F. Hoffmann Incidence and Short-Term Outcome of Children With Symptomatic Presentation of Organic Acid and Fatty Acid Oxidation Disorders in Germany Pediatrics, December 1, 2002; 110(6): 1204 - 1211. [Abstract] [Full Text] [PDF]
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