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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Angelini C, Lücke S, Cantarutti F (1976) Carnitine deficiency of skeletal muscle: report of a treated case. Neurology 26:633–637
Angelini C, Govoni E, Bragaglia MM, Vergani L (1978) Carnitine deficiency: acute postpartum crisis. Ann Neurol 4: 558–561
Engel AG, Siekert RG (1972) Lipid storage myopathy responsive to prednisone. Arch Neurol 27:174–181
Engel AG, Angelini C (1973) Carnitine deficiency of human skeletal muscle with associated lipid storage myopathy: a new syndrome. Science 179:899–901
Engel AG, Banker BQ, Eiben RM (1977) Carnitine deficiency: clinical, morphological and biochemical observations in a fatal case. J Neurol Neurosurg Psychiat 40:313–322
Engel AG, Santa T, Stonnington HH, Jerusalem F, Tsujihata M, Brownell AKW, Sakatibara H, Banker BQ, Sahashi K, Lambert EH (1979) Morphometric study of skeletal muscle ultrastructure. Muscle Nerve 2:229–237
Hart ZH, Chang CH, DiMauro S, Farooki Q, Ayyar R (1978) Muscle carnitine deficiency and fatal cardiomyopathy. Neurology 28:147–151
Hosking GP, Cavanagh NPC, Smyth DPL, Wilson J (1977) Oral treatment of carnitine myopathy. Lancet I:853–854
Karpati G, Carpenter S, Engel AG, Watters G, Allen J, Rothman S, Klassen G, Mamer OA (1975) The syndrome of systemic carnitine deficiency. Clinical, morphologic, biochemical and pathophysiologic features. Neurology 25: 16–24
Parvin R, Pande SV (1977) Microdetermination of (-)carnitine and carnitine acetyltransferase activity. Anal Biochem 79: 190–201
Pongratz D, Hübner G, Deufel T, Wieland O, Pongratz E, Liphardt R (1979) Klinische, morphologische und biochemische Befunde bei Carnitinmangelmyopathien. Klin Wochenschr 57:927–936
Scarlato G, Albizzati MG, Bassi S, Cerri C, Frattola L (1977) A case of lipid storage myopathy with carnitine deficiency. Biochemical and electromyographic correlations. 16:222–229
Sengers RCA, Stadhouders AM, Trijbels JMF (1978) Metabolic myopathies associated with stunted growth. Monogr Hum Genet 10:75–79
Smyth DPL, Lake BD, MacDermont J, Wilson J (1975) Inborn error of carnitine metabolism (“carnitine deficiency”) in man. Lancet I:1198–1199
Van Dijke DH, Griggs RC, Markesbery W, DiMauro S (1975) Hereditary carnitine deficiency of muscle. Neurology 25: 154–160
Weibel ER, Kistler GS, Schevle WF (1966) Practical stereological methods for morphometric stereology. J Cell Biol 30:23–28
Willner J, DiMauro S, Eastwood A, Hays A, Rochi F, Lovelace R (1979) Muscle carnitine deficiency. Genetic heterogeneity. J Neurol Sci 41:235–246
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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
- Lipid storage myopathy