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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 reduced state.

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

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