Deficient muscle carnitine transport in primary carnitine deficiency

Roser Pons, Rosalba Carrozzo, Ingrid Tein, Winsome F. Walker, Linda J. Addonizio, William Rhead, Armand F. Miranda, Salvatore Dimauro, Darryl C. De Vivo

Research output: Contribution to journalArticle

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Abstract

Primary carnitine deficiency is associated with deficient blood and tissue carnitine concentrations. The clinical syndrome is dominated by heart and skeletal muscle symptoms, and the clinical response to oral carnitine supplementation is life-saving. Carnitine uptake has been shown to be defective in cultured skin fibroblasts and leukocytes obtained from patients with this condition. We report a new case of primary carnitine deficiency and offer direct evidence consistent with an impairment of carnitine uptake in differentiating muscle culture. The patient presented with severe and progressive cardiomyopathy and moderate proximal limb weakness. Plasma and muscle carnitine levels were very low, and the maximal rate of carnitine transport in cultured fibroblasts was deficient. An asymptomatic sister with intermediate levels of carnitine in plasma showed partially deficient carnitine uptake in fibroblasts, indicating heterozygosity. The patient's condition improved dramatically with oral carnitine therapy. Further studies were performed in cultured muscle cells at different stages of maturation, which demonstrated deficient maximal rates of carnitine uptake. Our findings are consistent with the concept that primary carnitine deficiency is the result of a generalized defect involving carnitine transport across tissue membranes.

Original languageEnglish
Pages (from-to)583-587
Number of pages5
JournalPediatric Research
Volume42
Issue number5
Publication statusPublished - Nov 1997

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Carnitine
Muscles
Fibroblasts
Systemic carnitine deficiency
Cardiomyopathies
Muscle Cells
Siblings
Cultured Cells
Myocardium
Skeletal Muscle
Leukocytes
Extremities

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Pons, R., Carrozzo, R., Tein, I., Walker, W. F., Addonizio, L. J., Rhead, W., ... De Vivo, D. C. (1997). Deficient muscle carnitine transport in primary carnitine deficiency. Pediatric Research, 42(5), 583-587.

Deficient muscle carnitine transport in primary carnitine deficiency. / Pons, Roser; Carrozzo, Rosalba; Tein, Ingrid; Walker, Winsome F.; Addonizio, Linda J.; Rhead, William; Miranda, Armand F.; Dimauro, Salvatore; De Vivo, Darryl C.

In: Pediatric Research, Vol. 42, No. 5, 11.1997, p. 583-587.

Research output: Contribution to journalArticle

Pons, R, Carrozzo, R, Tein, I, Walker, WF, Addonizio, LJ, Rhead, W, Miranda, AF, Dimauro, S & De Vivo, DC 1997, 'Deficient muscle carnitine transport in primary carnitine deficiency', Pediatric Research, vol. 42, no. 5, pp. 583-587.
Pons R, Carrozzo R, Tein I, Walker WF, Addonizio LJ, Rhead W et al. Deficient muscle carnitine transport in primary carnitine deficiency. Pediatric Research. 1997 Nov;42(5):583-587.
Pons, Roser ; Carrozzo, Rosalba ; Tein, Ingrid ; Walker, Winsome F. ; Addonizio, Linda J. ; Rhead, William ; Miranda, Armand F. ; Dimauro, Salvatore ; De Vivo, Darryl C. / Deficient muscle carnitine transport in primary carnitine deficiency. In: Pediatric Research. 1997 ; Vol. 42, No. 5. pp. 583-587.
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