Medium-chain acyl-CoA dehydrogenase deficiency: molecular aspects.

Abstract excerpt

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an autosomal recessive disorder which is known to cause Reye-like syndrome in children and sudden infant death. A point mutation of lysine329-to-glutamic acid329 substitution in the MCAD gene was recently identified as the most common mutation in patients with MCAD deficiency. This mutation is responsible for about 90% of mutant MCAD alleles in Caucasians....

Topics

• Acyl-CoA Dehydrogenase
• Acyl-CoA Dehydrogenases
• DNA Probes
• Fatty Acids
• Humans
• Lipid Metabolism, Inborn Errors
• Mass Screening
• Mutation
• Polymerase Chain Reaction