[Hereditary defects of glycogenolysis and glycolysis enzymes in neuromuscular diseases (a review)].
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Biomedical subjects
Publications and source records attributed to E L Rozenfel'd.
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Some properties of human chorion neuraminidase were studied. Using n-butanol, a solubilized preparation of neuraminidase with specific activity considerably exceeding the initial activity of the chorion homogenate was obtained. The pH-dependence and substrate specificity of the enzyme towards low molecular weight (sialylglycolipids and sialylglycoproteins) native substrates were examined. These properties of solubilized neuraminidase from human chorion were found to be similar to those of the lysosomal enzyme from other animal tissues. The results abtained are consistent with the properties of neuraminidase from native chorion and amniotic fluid cell cultures. Based on the substrate specificity of the solubilized enzyme, it was found that chorion biopsy specimens could be used for prenatal diagnosing of sialidoses and mucolipidoses IV. Some properties of solubilized human chorion beta-galacotosidase were studied.
Morphological, electron microscopic, and biochemical studies of the livers of rats with experimental autoimmune cardiomyopathy were carried out. Morphological alterations of the liver included changes in hepatocytes, significant deposition of glycogen in liver cells, fatty dystrophy, signs of necrobiosis and necrosis in some parts of the liver. Electron microscopic studies of intracellular localization of glycogen revealed its accumulation in the cytoplasm, glycogen granules being represented mostly by alpha-particles. Lysosomes filled with glycogen were also demonstrated. These data are in good accord with the results of biochemical studies. The experimental results suggest possible causes of increased content of glycogen in the cytoplasm and lysosomes of liver cells in animals with experimental autoimmune cardiomyopathy, as compared with normal animals. The relationship between disorders in glycogen and lipid metabolism in this disease is discussed.
Different types of hepatic, muscular, and generalized forms of glycogen stogare disease, a hereditary disease caused by glycogen metabolism disorders, are analysed. The clinical and biochemical features of these diseases are described. The data on enzyme defects and methods for their detection in different types of glycogenoses as well as on the prevalence of the disease in different countries are presented.
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