Riboflavin-responsive epilepsy in a patient with SER209 variant form of short-chain acyl-CoA dehydrogenase

J Inherit Metab Dis. 1995;18(2):227-9. doi: 10.1007/BF00711774.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Acyl-CoA Dehydrogenase
  • Acyl-CoA Dehydrogenases / genetics*
  • Alleles
  • Anticonvulsants / therapeutic use*
  • Cells, Cultured
  • Child, Preschool
  • Epilepsy / drug therapy*
  • Epilepsy / genetics
  • Fatty Acids, Volatile / metabolism
  • Female
  • Fibroblasts / metabolism
  • Follow-Up Studies
  • Genetic Variation*
  • Humans
  • Oxidation-Reduction
  • Riboflavin / therapeutic use*

Substances

  • Anticonvulsants
  • Fatty Acids, Volatile
  • Acyl-CoA Dehydrogenases
  • Acyl-CoA Dehydrogenase
  • Riboflavin