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Case Reports
. 1980 Dec;135(2):205-9.
doi: 10.1007/BF00441643.

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

R C Sengers, J A Bakkeren, J M Trijbels, A M Stadhouders, G J Egberink, H J ter Laak, H J Jaspar
Case Reports

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

R C Sengers et al. Eur J Pediatr. 1980 Dec.

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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