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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The stability of washed erythrocytes from patients with muscular dystrophy was determined in hypotonic phosphate buffered sodium chloride. Control cells were more stable than cells from Duchenne and myotonic patients. After pretreatment of the cells with phospholipase from pancreas, snake venom or bee venom in the presence of 14 mmol/l Ca2+, the order of osmotic stability in the 3 groups was not changed. In isotonic phosphate buffered NaCl, however, the erythrocytes of the myotonic patients were much more stable than the cells of the Duchenne and the control group. The lytic process was further studied in control cells with pancreatic phospholipase. 21 +/- 3 (S.E.M.) % of the cells were lysed. This process was (partly) prevented by omitting the phospholipase, by replacement of Na+ by K+ or Li+, by lowering the Ca2+ concentration, by omitting phosphate, by ouabain, by glucose, by ribose, by sucrose, by tetrodotoxin, a Na+-transport inhibitor. Blocking of the Ca2+ transport by La3+ or mersalyl, greatly stimulated the lytic process.
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PMID:Osmotic stability of erythrocytes in human muscular dystrophy before and after phospholipase treatment. 46 13

The maintenance of blood glucose is largely dependent on the ability of the skeletal muscles to regulate the supply of amino acids for hepatic glucose production. This study shows that when muscles are damaged in muscular dystrophy the mechanisms by which this control is exerted are impaired. In normally fed congenitally dystrophic mice the blood glucose level was raised and there were significant reductions of the levels of the principal gluconeogenic amino acids in the circulation. This was a result of abnormal exchange of amino acids between the dystrophic muscles and the blood, apparently due to the use of amino acids to a considerable extent in place of glucose for energy metabolism within the diseased muscles. When dystrophic animals were fasted, further reductions in the levels of amino acids in the circulation, to abnormally low values, were caused by an increased use of these amino acids by the liver for gluconeogenesis. Although the reason for the excessive metabolism of amino acids in dystrophic muscle is not clear, such changes will favour muscle protein breakdown, and a stress such as fasting will further aggravate the process of muscle wasting by depleting still further the pool of amino acids in the body.
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PMID:The effects of murine muscular dystrophy on the metabolic and homeostatic functions of the skeletal muscles. 51 83

The cardiomyopathies comprise a diverse group of illnesses that can be characterized functionally by several techniques. However, the delineation of derangements of regional perfusion and metabolism have been accomplished only relatively recently with positron emission tomography (PET). Regional myocardial accumulation and clearance of 11C-palmitate, the primary myocardial substrate under most conditions, demonstrate marked spatial heterogeneity when studied under fasting conditions or with glucose loading. PET with 11C-palmitate permits the noninvasive differentiation of patients with nonischemic from ischemic dilated cardiomyopathy, since patients with ischemic cardiomyopathy demonstrate large zones of intensely depressed accumulation of 11C-palmitate, probably reflecting prior infarction. Patients with hypertrophic cardiomyopathy and Duchenne's muscular dystrophy demonstrate relatively unique patterns of myocardial abnormalities of perfusion and metabolism. The availability of new tracers and techniques for the evaluation of myocardial metabolism (11C-acetate), perfusion (H2(15)O), and autonomic tone (11-C-hydroxyephedrine) should facilitate further understanding of the pathogenesis of the cardiomyopathies.
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PMID:Metabolic imaging of patients with cardiomyopathy. 188 95

We have studied the water permeability through membranes, the function of the Na pump, and glucose metabolism of erythrocytes of patients with myotonic muscular dystrophy (MyD) using 1H--, 23Na, and 13C-NMR techniques. A significant decrease in water permeability was recognized in the MyD erythrocyte membrane, and impaired Na pumping was suspected to be correlated with the former biochemical abnormalities in band III protein of MyD erythrocyte membrane. Significant acceleration of glycolysis in the erythrocyte for the first 160 minutes was also recognized in MyD; however, the production of lactate showed no difference between MyD and controls. The increased glucose uptake in MyD may be compensatory to the diminished pumping mechanism, but further information, such as inorganic phosphate permeability and the activity of the rate-limiting enzyme of erythrocyte glycolysis, is needed.
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PMID:Study on the erythrocytes from myotonic dystrophy with multi-nuclear NMR. 199 97

A 42-year-old woman had a 10-year history of external ophthalmoplegia, malabsorption resulting in chronic malnutrition, muscle atrophy and polyneuropathy. Computer tomography revealed hypodensity of her cerebral white matter. A metabolic disturbance consisted of lactic acidosis after moderate glucose loads with increased excretion of hydroxybutyric and fumaric acids. Post-mortem studies revealed gastrointestinal scleroderma as the morphological manifestation of her malabsorption syndrome, ocular and skeletal myopathy with ragged red fibers, peripheral neuropathy, vascular abnormalities of meningeal and peripheral nerve vessels. Biochemical examination of the liver and muscle tissues revealed a partial defect of cytochrome-c-oxidase (complex IV of the respiratory chain). This mitochondrial multisystem disorder may represent a separate entity to be classified between the spectrum of myoencephalopathies and oculo-gastrointestinal muscular dystrophy.
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PMID:Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder. 282 22

The effects of a single oral dose of carnitine on fasting-induced ketosis was investigated in four normal individuals, five patients with muscular dystrophy, and one patient with a generalized cytochrome c oxidase deficiency. Plasma carnitine, free fatty acids, glucose, insulin, and glucagon were also measured. Normal individuals showed an average 0.09 mM increase in blood beta-hydroxybutyrate concentration during a 12- to 18-hr period of fasting and carnitine administration did not affect this response (average: 0.12 mM). Muscular dystrophy patients showed a greater fasting-induced elevation in beta-hydroxybutyrate (average 0.29 mM) and carnitine administration greatly enhanced this ketogenic response (average 0.84 mM). The cytochrome c oxidase deficient patient showed an even larger increase in beta-hydroxybutyrate with fasting (1.67 mM) and carnitine further augmented this ketotic effect (3.78 mM). Plasma free fatty acids were also elevated in patients that showed enhanced ketosis. Plasma glucagon concentration did not change, but insulin levels decreased during the 12- to 18-hr period of fasting; no major differences were found between controls and patients. These results indicate that some patients with muscular dystrophy and cytochrome c oxidase deficiency are more prone to develop ketosis than normal individuals and that carnitine administration enhances this response. Since both muscular dystrophy patients and the patient with cytochrome c oxidase deficiency had similar ketogenic responses, the data suggest that ketone body utilization may be impaired in these patients. The ability of L-carnitine to be ketogenic should be considered in the treatment of these patients.
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PMID:Ketogenic effects of carnitine in patients with muscular dystrophy and cytochrome oxidase deficiency. 283 95

Since skeletal muscle is an important source of precursor for gluconeogenesis, it would not be surprising if carbohydrate metabolism was altered in some muscle disorders. We report a 7-10/12-year-old white male with congenital muscular dystrophy whose recurrent episodes of vomiting and dehydration were due to fasting hypoglycemia. He was found to have a blood glucose of 21 mg/dl with an episode of vomiting and dehydration. Diagnostic fasting replicated the symptoms and hypoglycemia. Associated laboratory findings included hypoalaninemia, ketonemia, and acidosis. With use of frequent feedings, there were no further episodes over 1-9/12 years of observation. To our knowledge this is the first report of hypoglycemia complicating muscular dystrophy. However, hypoglycemia may not be diagnosed because of the nonspecific nature of the symptoms. Hypoglycemia should be considered when children with reduced muscle mass develop otherwise unexplained vomiting.
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PMID:Hypoglycemia in a child with congenital muscular dystrophy. 292 68

Thirty-six biopsy specimens of human biceps and vastus lateralis muscles were examined by histometric analysis and determination of enzyme activities (phosphorylase, triosephosphate dehydrogenase, 3-hydroxacyl-CoA-dehydrogenase, lactate dehydrogenase, hexose isomerase, citrate synthetase, 6-phosphogluconate dehydrogenase). The series included 13 specimens from patients suffering from a benign form of muscular dystrophy (limb girdle and Becker type of muscular dystrophy) and 12 specimens from patients with an acute (n = 5) or chronic (n = 7) form of myositis. Muscle fibres were atrophic in myositis and hypertrophic (with an increased variation of fibre diameters) in muscular dystrophies, as has been shown previously. When myositis samples were compared with either normal or dystrophic muscles, a highly significant lowering of glycolytic enzyme activity was found in chronic myositis, while the activity of 6-phosphogluconate dehydrogenase was elevated to highly significant levels. Measurements of the latter enzyme's activity might be of additional value in differentiating chronic forms of myositis from benign muscular dystrophies.
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PMID:Additional biochemical criteria in the differential diagnosis of myositis. 343 Jan 87

The normal range of glucose-phosphate-isomerase (GPI) in the plasma of children during the first month of life is up to 80 U/l; until the end of the second year of life between 11 and 50 U/l; thereafter the upper limit is 46 U/l. In osteogenic sarcoma or medulloblastoma there is a good correlation between activity of GPI in plasma and clinical tumor stage. In a lot of other tumors sensitivity of this enzyme is either very low as in Ewing-sarcoma or myeloic leukemia or there is no consistent relation to the extent of the tumor. High activities of GPI are equally obtained in children suffering from cystic fibrosis, diabetes mellitus or muscular dystrophy. GPI is not valid as a tumor marker even being raised in sarcoma and medulloblastoma as mentioned. So it is not necessary to check GPI activity as a part of routine enzyme chemistry.
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PMID:[Behavior of glucosephosphate isomerase in children with malignant diseases]. 346 43

Twenty-eight Holstein heifer calves were allotted at birth to one of four treatments: 1) 0 mg, 2) 1,400 mg, or 3) 2,800 mg of dl-alpha-tocopherol acetate given orally at weekly intervals, or 4) 1,400 IU of dl-alpha-tocopherol weekly by intramuscular injection in order for us to study their performance and metabolic profile. Calves were fed milk at 8% of birth weight until they were weaned at 6 wk of age and fed a complete calf starter ad libitum from birth. Calves were on experiment for 12 wk. There were no significant differences in weekly weight gains, starter consumption, and fecal scores among treatments. However, there was a trend toward greater starter consumption and weight gains in supplemental calves. Serum alpha-tocopherol concentration measured after 7 d of each administration was significantly higher at wk 4 in calves given the high oral supplementation and at wk 2, 4, 6, and 8 higher in injected calves than in unsupplemented calves. Creatine kinase activity was higher in unsupplemented calves and negatively correlated with serum alpha-tocopherol until wk 8, suggesting preclinical muscular dystrophy. Alkaline phosphatase activity was higher with the high oral supplementation. Serum carbon dioxide values showed a trend toward positive correlation with those for serum tocopherol; however, the values were within normal range. There were no significant differences in creatinine, glucose, phosphorus, calcium, urea nitrogen, chloride, sodium, potassium, albumin, and total protein among treatments. Serum glucose was higher in all calves at wk 10 and 12 than at wk 4, 6, and 8. Calves may not get enough vitamin E with conventional calf starters, and supplementation may be essential to obtain maximum performance.
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PMID:Effects of supplemental vitamin E on the performance and metabolic profiles of dairy calves. 406 45


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