Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake

Ann Neurol. 1991 Nov;30(5):709-16. doi: 10.1002/ana.410300512.


A defect in intracellular uptake of carnitine has been identified in patients with severe carnitine deficiency. To define the clinical manifestations of this disorder, the presenting features of 15 affected infants and children were examined. Progressive cardiomyopathy, with or without chronic muscle weakness, was the most common presentation (median age of onset, 3 years). Other patients presented with episodes of fasting hypoglycemia during the first 2 years of life before cardiomyopathy had become apparent. A defect in carnitine uptake was demonstrable in fibroblasts and leukocytes from patients. The defect also appears to be expressed in muscle and kidney. Concentrations of plasma carnitine and rates of carnitine uptake in parents were intermediate between affected patients and normal control subjects, consistent with recessive inheritance. Early recognition and treatment with high doses of oral carnitine may be life-saving in this disorder of fatty acid oxidation.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Biological Transport
  • Cardiomyopathies / drug therapy
  • Cardiomyopathies / genetics
  • Cardiomyopathies / metabolism*
  • Carnitine / pharmacokinetics*
  • Carnitine / therapeutic use
  • Cells, Cultured
  • Child
  • Child, Preschool
  • Coma / drug therapy
  • Coma / genetics
  • Coma / metabolism*
  • Fatty Acids / metabolism
  • Female
  • Fibroblasts / metabolism
  • Genes, Recessive
  • Humans
  • Hypoglycemia / genetics
  • Hypoglycemia / metabolism
  • Kidney / metabolism
  • Leukocytes / metabolism
  • Lipid Metabolism, Inborn Errors / drug therapy
  • Lipid Metabolism, Inborn Errors / genetics
  • Lipid Metabolism, Inborn Errors / metabolism*
  • Male
  • Mitochondria / metabolism
  • Muscles / metabolism
  • Oxidation-Reduction


  • Fatty Acids
  • Carnitine