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Successful carnitine treatment in a non-carnitine-deficient lipid storage myopathy


An 18-month-old boy presented with general hypotonia, decreased muscle strength, retarded motor development and stunted growth. The excretion of dicarboxylic acids was enhanced. EMG was normal. A muscle biopsy revealed a lipid storage myopathy. Oral daily supplementation with 2 g D,L-carnitine resulted in: (1) an increase of the growth velocity; (2) increased muscle strength, and (3) a decrease in the lipid fraction of the fibre volume. The carnitine content of the muscle biopsied prior to treatment appeared to be normal.

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Correspondence to R. C. A. Sengers.

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Supported by a grant from the “Prinses Beatrixfonds”

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Sengers, R.C.A., Bakkeren, J.A.J.M., Trijbels, J.M.F. et al. Successful carnitine treatment in a non-carnitine-deficient lipid storage myopathy. Eur J Pediatr 135, 205–209 (1980).

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Key words

  • Muscle
  • Lipid storage myopathy
  • Carnitine
  • Morphometria