Abstract
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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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). https://doi.org/10.1007/BF00441643
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DOI: https://doi.org/10.1007/BF00441643