title: Frequency of medium-chain acyl-CoA dehydrogenase deficiency G-985 mutation in sudden infant death syndrome.
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/NcoI 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.
authors.affiliation: Department of Pediatrics, University of Rochester School of Medicine and Dentistry, New York 14642.
authors.forename: M E
authors.initials: ME
authors.lastname: Miller
authors.forename: J G
authors.initials: JG
authors.lastname: Brooks
authors.forename: N
authors.initials: N
authors.lastname: Forbes
authors.forename: R
authors.initials: R
authors.lastname: Insel
mesh_terms: D042964:Acyl-CoA Dehydrogenase; D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency* / Q000235:genetics*; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors / Q000201:enzymology* / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D013398:Sudden Infant Death / Q000209:etiology*
chemical_list: D004247:DNA; D044944:Acyl-CoA Dehydrogenases; D042964:Acyl-CoA Dehydrogenase