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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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          Abstract

          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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          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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              Disorders of mitochondrial long-chain fatty acid oxidation.

              The oxidation of long-chain fatty acids requires a series of enzymes which are located in or on the mitochondrial membranes. These include carnitine palmitoyltransferases I and II, a carnitine-acylcarnitine translocase and, newly discovered, very long-chain acyl-CoA dehydrogenase and the mitochondrial trifunctional protein. These last two chain-shorten acyl-CoA esters to the point where they can be transferred to the more soluble medium- and short-chain-specific enzymes within the mitochondrial matrix. The disorders of long-chain fatty acid oxidation show a rather similar range of clinical and biochemical features, though with different emphasis in the different conditions. Patients with severe defects usually present early with acute attacks of hypoketotic hypoglycaemia and impaired liver function, or with cardiomyopathy or cardiac arrhythmia. In milder variants, skeletal myopathy with intermittent myoglobinuria develops later in life. 3-Hydroxyacyl-CoA dehydrogenase deficiency is unusual in producing peripheral neuropathy and retinitis pigmentosa. Treatment is based on the avoidance of fasting and replacement of normal dietary fat by medium-chain triglyceride, the medium-chain fatty acids entering the mitochondria in a carnitine-independent manner and bypassing the long-chain part of the spiral. Diagnosis must ultimately be based on direct assay of the enzyme involved, but preliminary indicators may come from determination of carnitine and intermediate metabolites in plasma, urinary organic acid profiling, and radioisotopic screening assays with lymphocytes or cultured fibroblasts.
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                Author and article information

                Contributors
                Role: ND
                Role: ND
                Role: ND
                Role: ND
                Journal
                gmc
                Gaceta Médica de Caracas
                Gac Méd Caracas.
                ATEPROCA (Caracas )
                0367-4762
                December 2003
                : 111
                : 4
                : 287-293
                Affiliations
                [1 ] Instituto Nacional de Higiene  Rafael Rangel
                [2 ] Universidad Central de Venezuela Venezuela
                Article
                S0367-47622003000400004
                60242efe-8421-4581-adc6-a9251dd0a924

                http://creativecommons.org/licenses/by/4.0/

                History
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                SciELO Venezuela

                Self URI (journal page): http://www.scielo.org.ve/scielo.php?script=sci_serial&pid=0367-4762&lng=en
                Categories
                MEDICINE, GENERAL & INTERNAL

                Internal medicine
                Myopathy,Lipid storage,Carnitine deficiency,Miopatía,Depósito de lípidos,Deficiencia de Carnitina

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