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      Miopatía por depósito de lípidos Una entidad válida en el diagnóstico del síndrome hipotónico. Correlación clínico-morfológica

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          Las miopatías por depósito de lípidos son la expresión fundamental de los trastornos del metabolismo lipídico muscular. En el presente estudio exponemos cuatro casos de la entidad y señalamos las características clínicas, histopatológicas y bioquímicas que están presentes en los defectos genéticos del metabolismo de los ácidos grasos del músculo esquelético. En tres casos los hallazgos fueron compatibles con el diagnóstico de la entidad por déficit de carnitina y en uno por déficit de flavoproteínas. Tres correspondieron a pacientes del sexo femenino. Concluimos que con una correlación sistemática de los datos clínicos y paraclínicos, así como también del estudio morfológico, se puede inferir la posible etiología de estas miopatías, cuyo diagnóstico definitivo es por medio del análisis bioquímico.

          Translated abstract

          Lipid storage myopathies are the fundamental expression of lipid metabolic muscular disorders. In this study we discuss four cases of the entity, pointing out the clinical, histopathological and biochemical characteristics present in the known genetic errors of the fatty acid metabolism of the skeletal muscle. Three of these patients were females. In three of our cases the findings could be related to carnitine deficiency and the other one to flavoprotein deficiency. We conclude that if clinical and laboratory data, as well as morphological study are sistematically correlated, the etiology of these myopathies can be infered, though the definitive diagnosis should be established by biochemical methods.

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          Most cited references 13

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          Carnitine deficiency of human skeletal muscle with associated lipid storage myopathy: a new syndrome.

          In a rare myopathy muscle fibers contained myriad lipid-filled vacuoles. Homogenates of the patient's muscle oxidized fatty acids more slowly than normal (11 controls). Addition of carnitine increased the oxidation rate with the patient's muscle to the level attained by the controls with carnitine. In five separate muscle samples from the patient the mean carnitine level was less than 20 percent of that observed in 42 controls. Carnitine palmityl transferase and palmityl thiokinase levels in the patient's muscles were not depressed. The present case represents the first recognized instance of carnitine deficiency in human skeletal muscle.
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            Muscle biopsy. A practical approach

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              Carnitine and physical exercise.

               O Heinonen (1996)
              Carnitine plays a central role in fatty acid (FA) metabolism. It transports long-chain fatty acids into mitochondria for beta-oxidation. Carnitine also modulates the metabolism of coenzyme-A (CoA). It is not surprising that the use of supplementary carnitine to improve physical performance has become widespread in recent years, although there is no unequivocal support to this practice. However, critical reflections and current scientific-based knowledge are important because the implications of reduced or increased carnitine concentrations in vivo are not thoroughly understood. Several rationales have been forwarded in support of the potential ergogenic effects of oral carnitine supplementation. However, the following arguments derived from established scientific observations may be forwarded: (i) carnitine supplementation neither enhances FA oxidation in vivo or spares glycogen or postpones fatigue during exercise. Carnitine supplementation does not unequivocally improve performance of athletes; (ii) carnitine supplementation does not reduce body fat or help to lose weight; (iii) in vivo pyruvate dehydrogenase complex (PDC) is fully active already after a few seconds of intense exercise. Carnitine supplementation induces no further activation of PDC in vivo; (iv) despite an increased acetyl-CoA/free CoA ratio, PDC is not depressed during exercise in vivo and therefore supplementary carnitine has no effect on lactate accumulation; (v) carnitine supplementation per se does not affect the maximal oxygen uptake (VO2max); (vi) during exercise there is a redistribution of free carnitine and acylcarnitines in the muscle but there is no loss of total carnitine. Athletes are not at risk for carnitine deficiency and do not have an increased need for carnitine. Although there are some theoretical points favouring potential ergogenic effects of carnitine supplementation, there is currently no scientific basis for healthy individuals or athletes to use carnitine supplementation to improve exercise performance.

                Author and article information

                [1 ] Instituto Nacional de Higiene  Rafael Rangel
                [2 ] Universidad Central de Venezuela Venezuela
                Role: ND
                Role: ND
                Role: ND
                Role: ND
                Gaceta Médica de Caracas
                Gac Méd Caracas.
                ATEPROCA (Caracas )
                December 2003
                : 111
                : 4
                : 287-293


                Product Information: SciELO Venezuela


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