Premium
Frequency of 985 A‐to‐G mutation in medium‐chain acyl‐CoA dehydrogenase gene among patients with sudden infant death syndrome, Reye syndrome, severe motor and intellectual disabilities and healthy newborns in Japan
Author(s) -
NAGAO MASAYOSHI
Publication year - 1996
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.1996.tb03495.x
Subject(s) - medicine , reye syndrome , sudden infant death syndrome , acyl coa dehydrogenase , intellectual disability , mutation , beta oxidation , pediatrics , newborn screening , metabolic disorder , compound heterozygosity , dehydrogenase , gene , endocrinology , genetics , biochemistry , metabolism , psychiatry , enzyme , biology
The prevalence of the 985 A‐to‐G mutation in the medium‐chain acyl‐CoA dehydrogenase (MCAD) gene among Japanese patients with sudden infant death syndrome, Reye syndrome, unknown fatty acid oxidation disorders and severe motor and intellectual disabilities was studied using the PCR/Nco‐I method for molecular diagnosis. A frequency study of this common mutation was also conducted on blood samples and left over Guthrie cards from 329 healthy newborns in Japan. Neither heterozygotes nor homozygotes for the 985 A‐to‐G mutation were identified among both patients and controls. The result of the present study accord with previous reports that MCAD deficiency is a common disorder in Caucasians, but quite rare among Japanese. Therefore, newborn mass‐screening for MCAD deficiency using this method will not be practical in Japan. However, it still seems necessary to investigate a child with fatty acid oxidation disorder for the presence of MCAD deficiency, using both biochemical and molecular genetic methods.