Abstract
ABSTRACT: A small percentage of apparent sudden infant death syndrome (SIDS) victims may have an unsuspected metabolic disorder. Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a disorder of fatty acid oxidation that has been the most common such metabolic disorder found in series of SIDS victims. A single mutation in MCAD deficiency has been recently described (G-985) that accounts for approximately 90% of MCAD deficiency mutations. We studied the hypothesis that heterozygosity or homozygosity for this specific MCAD deficiency mutation might be associated with SIDS. DNA was extracted from the paraffin-embedded autopsy tissues of 67 victims of SIDS in Monroe county, NY who died between 1984 and 1989. Using the polymerase chain reaction/Ncol digestion method, we found no G-985 homozygotes and three (4.5%) G-985 heterozygotes. In 70 newborn controls, there were no G-985 homozygotes and one (1.4%) heterozygote. Although the frequency of G-985 heterozygotes was slightly greater than in our control group, it was not statistically different. We conclude that the specific MCAD deficiency mutation G-985 is not strongly associated with SIDS and that MCAD deficiency probably does not make a significant contribution to the etiology of SIDS.
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Miller, M., Brooks, J., Forbes, N. et al. Frequency of Medium-Chain Acyl-CoA Dehydrogenase Deficiency G-985 Mutation in Sudden Infant Death Syndrome. Pediatr Res 31, 305–307 (1992). https://doi.org/10.1203/00006450-199204000-00001
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DOI: https://doi.org/10.1203/00006450-199204000-00001
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