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The frequency of a disease‐causing point mutation in the gene coding for medium‐chain acyl‐CoA dehydrogenase in sudden infant death syndrome
Author(s) -
Lundemose Jytte B,
Gregersen Niels,
Karlvraa Steen,
Pedersen Bent Nerrgaard,
Gregersen Markil,
HelwegLarsen Karin,
Simonsen Jarrn
Publication year - 1993
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1993.tb12749.x
Subject(s) - sudden infant death syndrome , medicine , sudden death , population , point mutation , loss of heterozygosity , acyl coa dehydrogenase , etiology , disease , metabolic disorder , pediatrics , mutation , gene , genetics , biology , dehydrogenase , enzyme , biochemistry , allele , environmental health
A number of rare inherited metabolic disorders are known to lead to death in infancy. Deficiency of medium‐chain acyl CoA dehydrogenase has, on clinical grounds, been related particularly to sudden infant death syndrome. The contribution of this disorder to the etiology of sudden infant death syndrome is still a matter of controversy. The present study investigated 120 well‐defined cases of sudden infant death syndrome in order to detect the frequency of the most common disease‐causing point mutation in the gene coding for medium‐chain acyl‐CoA dehydrogenase (G985) compared with the frequency in the general population. A highly specific polymerase chain reaction assay was applied on dried blood spots. No over‐representation of homo‐ or heterozygosity‐for G985 appears to exist in such a strictly defined population, for which reason it may be m'bre relevant to look at a broader spectrum of clinical presentations of inherited metabolic disorders and examine a wider range of sudden death in infancy.