Muscle cytochrome c oxidase deficiency accompanied by a urinary organic acid pattern mimicking multiple acyl-CoA dehydrogenase deficiency

J Inherit Metab Dis. 1993;16(3):553-6. doi: 10.1007/BF00711679.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Acids / urine*
  • Acyl-CoA Dehydrogenases / deficiency*
  • Carnitine / blood
  • Carnitine / urine
  • Cytochrome-c Oxidase Deficiency*
  • Epilepsy / metabolism
  • Humans
  • Infant
  • Kinetics
  • Male
  • Muscles / enzymology*
  • Myristic Acid
  • Myristic Acids / metabolism
  • Oxidation-Reduction

Substances

  • Acids
  • Myristic Acids
  • Myristic Acid
  • Acyl-CoA Dehydrogenases
  • Carnitine