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 1 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 investigated. 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

Scarlato, G., Pellegrini, G., Cerri, C., Meola, G., & Veicsteinas, A. (1978). The syndrome of carnitine deficiency: morphological and metabolic correlations in two cases. CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES, 5(2), 205-213 [10.1017/S0317167100024562].

The syndrome of carnitine deficiency: morphological and metabolic correlations in two cases.

CERRI, CESARE GIUSEPPE;
1978

Abstract

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 1 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 investigated. 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
Articolo in rivista - Articolo scientifico
Scientifica
carnitine
English
Scarlato, G., Pellegrini, G., Cerri, C., Meola, G., & Veicsteinas, A. (1978). The syndrome of carnitine deficiency: morphological and metabolic correlations in two cases. CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES, 5(2), 205-213 [10.1017/S0317167100024562].
Scarlato, G; Pellegrini, G; Cerri, C; Meola, G; Veicsteinas, A
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/10281/33809
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