Newborns with C8-acylcarnitine level over the 90th centile have an increased frequency of the common MCAD 985A>G mutation.

Abstract excerpt

Medium chain acyl-coenzyme A dehydrogenase (MCAD) deficiency is the most commonly inherited defect of fatty acid oxidation. This autosomal recessive disorder is characterized by the tendency to become profoundly hypoglycaemic under fasting stress conditions, leading to lethargy, coma, brain injury and/or death. The most common mutation resulting in MCAD deficiency ascertained through individuals of northern...

Topics

• Acyl-CoA Dehydrogenase
• Alleles
• Carnitine
• DNA Mutational Analysis
• Fatty Acids
• Heterozygote
• Humans
• Infant, Newborn
• Lipid Metabolism, Inborn Errors
• Mass Spectrometry
• Mutation
• Neonatal Screening
• Oxygen
• Spectrometry, Mass, Electrospray Ionization