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.
D001706:Biopsy; D002331:Carnitine / Q000032:analysis / Q000627:therapeutic use*; D005260:Female; D006801:Humans; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications*; D009132:Muscles / Q000032:analysis / Q000473:pathology; D009135:Muscular Diseases / Q000188:drug therapy* / Q000209:etiology
D002331:Carnitine