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

Charles A. Stanley, Susan DeLeeuw, Paul M. Coates, Christine Vianey-Liaud, Priscille Divry, Jean Paul Bonnefont, Jean Marie Saudubray, Morey Haymond, Friedrich K. Trefz, Galen N. Breningstall, Rebecca S. Wappner, Dennis J. Byrd, Claude Sansaricq, Ingrid Tein, Warren Grover, David Valle, S. Lane Rutledge, William R. Treem

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
Pages (from-to)709-716
Number of pages8
JournalAnnals of Neurology
Volume30
Issue number5
StatePublished - Nov 1991

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Carnitine
Coma
Cardiomyopathies
Muscle Weakness
Age of Onset
Hypoglycemia
Leukocytes
Fatty Acids
Fibroblasts
Parents
Systemic carnitine deficiency
Kidney
Muscles

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Stanley, C. A., DeLeeuw, S., Coates, P. M., Vianey-Liaud, C., Divry, P., Bonnefont, J. P., ... Treem, W. R. (1991). Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake. Annals of Neurology, 30(5), 709-716.

Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake. / Stanley, Charles A.; DeLeeuw, Susan; Coates, Paul M.; Vianey-Liaud, Christine; Divry, Priscille; Bonnefont, Jean Paul; Saudubray, Jean Marie; Haymond, Morey; Trefz, Friedrich K.; Breningstall, Galen N.; Wappner, Rebecca S.; Byrd, Dennis J.; Sansaricq, Claude; Tein, Ingrid; Grover, Warren; Valle, David; Rutledge, S. Lane; Treem, William R.

In: Annals of Neurology, Vol. 30, No. 5, 11.1991, p. 709-716.

Research output: Contribution to journalArticle

Stanley, CA, DeLeeuw, S, Coates, PM, Vianey-Liaud, C, Divry, P, Bonnefont, JP, Saudubray, JM, Haymond, M, Trefz, FK, Breningstall, GN, Wappner, RS, Byrd, DJ, Sansaricq, C, Tein, I, Grover, W, Valle, D, Rutledge, SL & Treem, WR 1991, 'Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake', Annals of Neurology, vol. 30, no. 5, pp. 709-716.
Stanley CA, DeLeeuw S, Coates PM, Vianey-Liaud C, Divry P, Bonnefont JP et al. Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake. Annals of Neurology. 1991 Nov;30(5):709-716.
Stanley, Charles A. ; DeLeeuw, Susan ; Coates, Paul M. ; Vianey-Liaud, Christine ; Divry, Priscille ; Bonnefont, Jean Paul ; Saudubray, Jean Marie ; Haymond, Morey ; Trefz, Friedrich K. ; Breningstall, Galen N. ; Wappner, Rebecca S. ; Byrd, Dennis J. ; Sansaricq, Claude ; Tein, Ingrid ; Grover, Warren ; Valle, David ; Rutledge, S. Lane ; Treem, William R. / Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake. In: Annals of Neurology. 1991 ; Vol. 30, No. 5. pp. 709-716.
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