Common MCAD mutation in a healthy parent of two affected siblings

J Inherit Metab Dis. 1995;18(5):638-9. doi: 10.1007/BF02436011.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Acyl-CoA Dehydrogenase
  • Adult
  • DNA / analysis
  • Fatty Acid Desaturases / deficiency*
  • Fatty Acid Desaturases / genetics
  • Female
  • Homozygote
  • Humans
  • Hypoglycemia / enzymology
  • Infant
  • Infant, Newborn
  • Male
  • Mutation*

Substances

  • DNA
  • Fatty Acid Desaturases
  • Acyl-CoA Dehydrogenase