Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies.

Abstract excerpt

Medium chain acyl-CoA dehydrogenase deficiency (MCAD) is a defect in the mitochondrial oxidation of fatty acids. The disorder typically presents with episodes of vomiting and hypoglycemia, sometimes with changes in mental status and hepatic failure. These Reye's-like features may culminate in coma and death. Stress, intercurrent illness, and reaction to childhood immunization have been shown to precipitate acute...

Topics

• Acyl-CoA Dehydrogenase
• Acyl-CoA Dehydrogenases
• Amino Acid Sequence
• Base Sequence
• Carnitine
• Cohort Studies
• DNA
• Female
• Gene Deletion
• Genetic Testing
• Heterozygote