A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency

J Inherit Metab Dis. 1995;18(2):230-2. doi: 10.1007/BF00711775.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Caprylates / analysis
  • Caprylates / metabolism
  • Cardiomyopathies / etiology*
  • Carnitine Acyltransferases / deficiency*
  • Carnitine O-Palmitoyltransferase / analysis
  • Carnitine O-Palmitoyltransferase / metabolism
  • Cells, Cultured
  • Fatal Outcome
  • Female
  • Fibroblasts / metabolism
  • Humans
  • Infant, Newborn
  • Leukocytes / metabolism
  • Lipid Metabolism, Inborn Errors / complications
  • Lipid Metabolism, Inborn Errors / diagnosis*
  • Lipid Metabolism, Inborn Errors / enzymology
  • Oxidation-Reduction
  • Palmitates / analysis
  • Palmitates / metabolism

Substances

  • Caprylates
  • Palmitates
  • Carnitine Acyltransferases
  • Carnitine O-Palmitoyltransferase