Frequency of 985A-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.

Abstract

The prevalence of the 985A-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 985A-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.

• Authors: M Nagao
• Journal: Acta paediatrica Japonica : Overseas edition (Acta Paediatr Jpn) Vol. 38 Issue 4 Pg. 304-7 (Aug 1996) ISSN: 0374-5600 [Print] Australia
• PMID: 8840534 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Acyl-CoA Dehydrogenases

Topics

• Acyl-CoA Dehydrogenases (deficiency, genetics)
• Child
• Child, Preschool
• Gene Frequency
• Heterozygote
• Humans
• Infant
• Infant, Newborn
• Intellectual Disability (genetics)
• Metabolism, Inborn Errors (genetics)
• Movement Disorders (genetics)
• Mutation
• Reye Syndrome (genetics)
• Sudden Infant Death (genetics)