Summary
A case of lipid storage myopathy with systemic carnitine deficiency is reported. There was lipid storage also in the liver but not in leukocytes or the Schwann cells of peripheral nerves.
Carnitine concentration was normal in the father but below normal in the mother's muscle where abnormal accumulations of lipid droplets and mitochondria were present between the myofibrils and beneath the sarcolemmal sheath. Histographic analysis demonstrated type I fiber predominance in the patient and in his parents. Hereditary transmission of the disease through a recessive autosomal mechanism might be admitted in this case.
Zusammenfassung
Es wird ein Fall von Fettspeichermyopathie mit Karnitinmangel beschrieben. Die Fettspeicherung ist auch in der Leber, jedoch nicht in den Leukozyten und in den Schwannschen Zellen der peripheren Nerven nachweisbar. In den letztgenannten sowie im Muskelgewebe kann im Elektronenmikroskop eine Glycogen-Speicherung nachgewiesen werden, möglicherweise als unmittelbare Folge des Karnitinmangels auf dem Glycogen-Stoffwechsel.
In der Muskulatur der Mutter des Exploranden kann ebenfalls eine zu niedrige Karnitinkonzentration nachgewiesen werden, wobei ein Überschuß an Fettröpfchen und Mitochondrien zwischen den Myofibrillen und subsarko lemmal sichtbar ist. Histochemisch läßt sich ein Überwiegen der Typ-I-Fasern sowohl beim Patienten wie bei den Eltern nachweisen. Die Autoren vermuten, daß im vorliegenden Fall die Krankheit rezessiv autosomal vererbt worden ist.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Anderson, D. R.: A method of preparing peripheral leucocytes for electron microscopy. J, Ultrastruct. 13, 263–268 (1965)
Angelini, C., Pierobon, S., Lucke, S., Cantarutti, F.: Carnitine deficiency: Report of a treated case. Neurology 25, 3 (1974)
Angelini, C., Battistella, P. A., Vergani, L.: Carnitine deficiency states in human tissue in induced conditions and normal development. Abstracts. IV Internat. Cong. Neuromusc. Dis. Montreal, Canada, 17–21 September 1978
Boudin, B., Mikol, J., Guillard, A., Engel, A. G.: Fatal systemic carnitine deficiency with lipid storage in skeletal muscle, heart, liver and kidney. J. Neurol. Sci. 30, 313–325 (1976)
Bradley, W. G., Hudgson, P., Gardner-Medwin, D., Walton, J. N.: Myopathy associated with abnormal lipid metabolism in skeletal muscle. Lancet 1969 I, 495–498
Bradley, W. G., Tomlinson, B. E., Hardy, M.: Further studies of mitochondrial and lipid storage myopathies. J. Neurol. Sci. 35, 201–210
Cederblad, G., Bylund, A. C., Holm, J., Schersten, T.: Carnitine concentration in relation to enzyme activities and substrate utilisation in human skeletal muscles. Scan. J. Clin. Lab. Invest. 36, 547–552 (1976)
Childress, C. C., Sacktor, B., Traynor, D. R.: Function of carnitine in the fatty acid oxidase-deficient insect flight muscle. J. Biol. Chem. 242, 754–760 (1966)
Cornelio, F., Di Donato, S., Peluchetti, D., Bizzi, A., Bertagnolio, B., D'Angelo, A., Wiesmann, U.: Fatal case of lipid storage myopathy with carnitine deficiency. J. Neurol. Neurosurg. Psychiat. 40, 170–178 (1977)
Di Donato, S., Cornelio, F., Balestrini, M. R., Bertagnolio, B., Peluchetti, D.: Mitochondria-lipid-glycogen myopathy, hyperlactacidemia, and carnitine deficiency. Neurology 28, 1110–1116 (1978)
Engel, A. G., Angelini, C.: Carnitine deficiency of human muscle with associated lipid storage myopathy: A new syndrome. Science 179, 899–902 (1973)
Engel, A. G., Angelini, C., Nelson, R. A.: Identification of carnitine deficiency as a cause of human lipid storage myopathy. In: Exploratory concepts. II Control mechanism in development and function of muscle, pp. 601–617 (ed. A. T. Milhorat). Amsterdam: Excerpta Medica 1974
Engel, A. G., Banker, B. Q., Eiben, R. M.: Carnitine deficiency: clinical, morphological, and biochemical observations in a fatal case. J. Neurol. Neurosurg. Psychiat. 40, 313–322 (1977)
Gullotta, F., Payk, T. R., Solbach, A.: Sudanophile (mitochondriale) myopathye. Z. Neurol. 206, 309–326 (1974)
Hart Zwi, H., Chung-Ho, C., Di Mauro, S., Farooki, Q., Ayyar, R.: Muscle carnitine deficiency and fatal cardiomyopathy. Neurology 28, 147–151 (1978)
Isaacs, H., Hefron, J. J. A., Badenhorst, M., Pikering, A.: Weakness associated with the pathological presence of lipid in skeletal muscle: a detailed study of a patient with carnitine deficiency. J. Neurol. Neurosurg. Psychiat. 39, 1114–1123 (1976)
Jerusalem, F., Angelini, C., Engel, A. G.: Mitochondria-lipid-glycogen (MLG) disease of muscle. A morphologically regressive congenital myopathy. Arch. Neurol. 29, 162–169 (1973)
Jerusalem, F., Spiess, H., Baumgartner, G.: Lipid storage myopathy with normal carnitine levels. J. Neurol. Sci. 24, 273–282 (1975)
Karpati, G., Carpenter, S., Engel, A. G., Watters, G., Allen, J., Rothman, S., Klassen, G., Mamer, O. A.: The syndrome of systemic carnitine deficiency. Neurology 25, 16–24 (1975)
Markesbery, W. R., McQuillen, M. P., Procopis, P. G., Harrison, A. R., Engel, A. G.: Muscle carnitine deficiency. Arch. Neurol. 31, 320–324 (1974)
Mattle, H., Jerusalem, F., Nolte, J., Schollmeyer, P.: Belastungsinduzierte Muskelschwäche, Myalgien und Kontrakture. Schweiz. Med. Wschr. 107, 437 (1977)
Patten, B. M., Shabot, J. M., Alperin, J., Dodson, R. F.: Hepatitis-associated lipid storage myopathy responsive to prednisone. Neurology 27, 356 (1975)
Pearson, D. J., Chase, J. F., Tubbs, P. K.: The assay of (—)-carnitine and its 0-acyl derivatives. Methods Enzymol. 14, 612–622 (1969)
Scarlato, G., Pellegrini, G., Cerri, C., Meola, G., Veicsteinas, A.: The syndrome of carnitine deficiency: morphological and metabolic correlation in two cases. J. Can. Sci. Neurol. 5, 205–213 (1978)
Scholte, H. R., Meijer, A. E. F. H., Van Wijngaarden, G. K., Leenders, K. L.: Familial carnitine deficiency. A fatal case and subclinical state in a sister. J. Neurol. Sci. 42, 87–101 (1979)
Vandyke, D. H., Griggs, R. C., Markesbery, W., Di Mauro, S.: Hereditary carnitine deficiency of muscle. Neurology 25, 154–159 (1975)
Ware, A. J., Burton, W. C., McGarry, J. D., Marks, J. F., Weinberg, A. G.: Systemic carnitine deficiency. J. Pediatr. 93, 959–964 (1978)
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Pellegrini, G., Scarlato, G. & Moggio, M. A hereditary case of lipid storage myopathy with carnitine deficiency. J. Neurol. 223, 73–84 (1980). https://doi.org/10.1007/BF00313171
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00313171