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The Syndrome of Carnitine Deficiency: Morphological and Metabolic Correlations in Two Cases

Published online by Cambridge University Press:  18 September 2015

G. Scarlato ,
G. Pellegrini ,
C. Cerri ,
G. Meola  and
A. Veicsteinas
G. Scarlato*
Affiliation:
Department of Neurology and the Department of Physiology, University of Milan, Italy
G. Pellegrini
Affiliation:
Department of Neurology and the Department of Physiology, University of Milan, Italy
C. Cerri
Affiliation:
Department of Neurology and the Department of Physiology, University of Milan, Italy
G. Meola
Affiliation:
Department of Neurology and the Department of Physiology, University of Milan, Italy
A. Veicsteinas
Affiliation:
Department of Neurology and the Department of Physiology, University of Milan, Italy
*
Clinica Neurologica, Via F. Sforza, 35, 20122 Milano, Italy.
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Two cases of systemic carnitine deficiency are described. In both patients, carnitine concentration was lower than normal in serum and muscle tissue. In the first case, the illness began at age 35; the clinical manifestations were only muscular. In the second case, the illness began in childhood; there were intermittent episodes of hepatic enlargement and coma. An excessive lipid content was present in muscle tissue, especially in type I fibers, of both cases, and in the liver of the second patient. Ultrastructural studies of muscle tissue revealed important changes of mitochondria.

During muscular exercise, aerobic and anaerobic metabolism were in vestigated. For a given relative work intensity, these patients showed abnormally high blood lactic acid concentration and lactic acid/pyruvic acid ratios. These data, together with the morphological alterations observed in mitochondria, suggest an impaired function of the respiratory chain, leading to a shift of the red/ox potential of the tissue towards a non reducedstate.

Type
Research Article
Information
Canadian Journal of Neurological Sciences , Volume 5 , Issue 2 , May 1978 , pp. 205 - 213
Copyright
Copyright © Canadian Neurological Sciences Federation 1978

References

REFERENCES

Angelini, C, Pierobon, S., Luke, S., and Cantarutti, F., (1976). Carnitine deficiency: report of a treated case. Neurol. 26: 633–637.CrossRefGoogle ScholarPubMed
Bank, W.J., Di Mauro, S., Bonilla, E., Capuzzi, D.M., and Rowland, L.P., (1975). A disorder of muscle lipid metabolism and myoglobinuria. N. Engl. J. Med. 292: 443–449.CrossRefGoogle ScholarPubMed
Bonilla, E., Schotland, D.L., Di Mauro, S., and Aldover, B., (1975). Electron cytochemistry of crystalline inclusions in human skeletal muscle mitochondria. J. Ultrast. Res. 51: 404–408.CrossRefGoogle ScholarPubMed
Boudin, G., Mikol, J., Guillard, A., and Engel, A.G., (1976). Fatal systemic carnitine deficiency with lipid storage in skeletal muscle, heart, liver and kidney. J. Neurol. Sci. 30; 313–325.CrossRefGoogle ScholarPubMed
Childress, C.C, Sacktor, B., and Traynor, D.R., (1966). Function of carnitine in the fatty acid oxidase-deficient insect flight muscle. J. Biol. Chem. 242: 754–760.CrossRefGoogle Scholar
Cornelio, F., Di Donato, S., Pelucchetti, D., Bizzi, A., Bertagnolio, B., D#x2019;angelo, A., and Wiesmann, U., (1977). Fatal cases of lipid storage myopathy with carnitine deficiency. J. Neurol. Neuros. Psych. 40: 170–178.CrossRefGoogle ScholarPubMed
Di Mauro, S., Schotland, D.L., Bonilla, E., Lee, C.P., Gambetti, P.L., and Rowland, L.P., (1973). Progressive ophthalmoplegia, glycogen storage and abnormal mitochondria. Arch. Neurol. 29: 170–173.CrossRefGoogle ScholarPubMed
Engel, A.G., and Angelini, C., (1973). Carnitine deficiency of human muscle with associated lipid storage myopathy: a new syndrome. Science 179: 899–902.CrossRefGoogle ScholarPubMed
Engel, A.G., Banker, B.Q., and Eiben, R.M., (1977). Carnitine deficiency: clinical, morphological and biochemical observations in afatal case. J. Neurol. Neuros. Psych. 40: 313–322.CrossRefGoogle Scholar
Engel, A.G., and Siekert, R.G., (1972). Lipid storage myopathy responsive to prednisone. Arch. Neurol. 27: 174–181.CrossRefGoogle ScholarPubMed
Fritz, I.B., and Yue, K.T.N., (1963). Long-chain carnitine acyltransferase and the role of acylcarnitine derivates in the catalytic increase of fatty acid oxidation induced by carnitine. J. Lip. Res. 4: 279–280.CrossRefGoogle ScholarPubMed
Isaacs, H., Heffron, J.J.A., Badenhorst, M., and Pickering, A., (1976). Weakness associated with pathological presence of lipid in skeletal muscle: a detailed study of a patient with carnitine deficiency. J. Neurol. Neuros. Psych. 39: 1114–1123.CrossRefGoogle Scholar
Karpati, G., Carpenter, S., Engel, A.G., Watters, G., Allen, J., Rothman, S., Klassen, G., and Mamer, O.A., (1975). The syndrome of systemic carnitine deficiency. Neurol. 25: 16–24.CrossRefGoogle ScholarPubMed
Margaria, R., Cerretelli, P., Di Prampero, P.E., Massari, C., and Torelli, G., (1963). Kinetics and mechanism of oxygen debt contraction in man. J. Appl. Physiol. 18: 371.CrossRefGoogle ScholarPubMed
Margaria, R., Aghemo, P., and Rovelli, E., (1965). Indirect determination of maximal 02 consumption in man. J. Appl. Physiol. 20: 1070.CrossRefGoogle Scholar
Markesbery, W.R., McQuillen, M.P., Procopis, P.G., Harrison, A.R., and Engel, A.G., (1974). Muscle carnitine deficiency. Association with lipid myopathy vacuolar neuropathy and vacuolated leucocytes. Arch. Neurol. 31: 320–324.CrossRefGoogle Scholar
Mostardi, R., Kubika, R., Veicsteinas, A., and Margaria, R., (1974). The effect of increased body temperature due to exercise on the heart rate and on the maximal aerobic power. Europ. J. appl. Physiol. 33: 237–245.CrossRefGoogle ScholarPubMed
Newsholme, E.A., and Start, C., (1973). Regulation of metabolism. Wiley, London, page 20–21.Google Scholar
Reske-Nielsen, E., Lou, C.H., and Lowers, M., (1976. Progressive external ophthalmoplegia. Acta Ophthal. 54: 553–573.CrossRefGoogle ScholarPubMed
Scarlato, G., Pellegrini, G. and Veicsteinas, A. (in press). Morphologic and metabolic studies in a case of oculo-cranio-somatic neuromuscular disease. J. Neuropathol. Exper. Neurol.Google Scholar
Schotland, D.L., Di Mauro, S., Bonilla, E., Scarpa, A. and Lee, C.P. (1976. Neuromuscular disorder associated with a defect in mitochondrial energy supply. Arch. Neurol. 33: 475–479.CrossRefGoogle ScholarPubMed
Shy, G.M., Gonatas, N.K. and Perez, M. (1966). Childhood myopathies with abnormal mitochondria. 1-Megaconial myopathy. 2-Pleoconial myopathy. Brain 89: 133–158.CrossRefGoogle ScholarPubMed
Slavin, G., Willis, E.J. Richmond, J.E., Chanarin, I., Andrews, T. and Stewart, G. (1975). Morphological features in a neutral lipid myopathy. J. Clin. Path. 28: 701–710.CrossRefGoogle Scholar
Smyth, D.P.L., Lake, B.D., McDermot, J. and Wilson, J. (1975). Inborn error of carnitine metabolism (carnitine deficiency) in man. Lancet 1: 1198–1199.CrossRefGoogle ScholarPubMed
Sulaiman, W.R., Doyle, D., Johnson, R.H. and Jennett, S. (1974). Myopathy with mitochondrial inclusion bodies: histological and metabolic studies. J. Neurol., Neurosurg. and Psych. 37: 1236–1246.CrossRefGoogle ScholarPubMed
Van Dyke, D.H., Griggs, R.C, Markesbery, W. and Di Mauro, S. (1975). Hereditary carnitine deficiency of muscle. Neurol. 25: 154–159.CrossRefGoogle ScholarPubMed