[Changes in glycogen metabolism in hereditary muscular diseases (review)]. / Narusheniia v obmene glikogena pri nasledstvennoi myshechnoi patologii (obzor).

Impairments of glycogen metabolism in muscles, which occurred in some types of the glycogen storage disease as well as in hereditary diseases of unestablished biochemical nature are reviewed. Hereditary diseases of animals caused by impairment of glycogen metabolism are considered.

[Properties of human chorion neuraminidase]. / Svoistva neraminidazy khoriona cheloveka.

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.

[Biochemical diagnosis of sialidosis in a child with a "cherry spot" in the fundus oculi as the main clinical symptom of the disease]. / Biokhimicheskoe vyiavlenie sialidoza u rebenka s "vishnevoi" na glaznom dne v kachestve osnovnogo klinicheskogo simptoma bolezni.

Biochemical study of a 6 years old child with decreased visus and cherry red spot but without any somatic and mental abnormalities was carried out. Leukocyte lysosomal hydrolases exhibited a distinct deficiency of neuraminidase activity in the child and a decrease of the enzyme activity in the parents of the child. The neuraminidase activity in leukocytes of mother and father constituted 37% and 53% of the control values, respectively; these data enabled to consider the parents as heterozygotes. Excretion of total sialylolygosaccharides with urine was increased 4-5-fold in the patient as compared with suitable controls. It was concluded that the patient studied was affected by sialidosis of the type I.

[Disruption of the regulation of glycogen phosphorylation by biogenic amines]. / O narushenii reguliatsii fosforoliza glikogena biogennymi aminami.

In rats with experimental cardiomyopathy the content of liver glycogen was considerably higher than in controls and the biogenic amines had no activating effect on glycogen phosphorolysis. The activity of monoamine oxidase was lower in experimental animals than in controls. After injections of monoamine oxidase inhibitors to normal rats no activation of phosphorolysis by biogenic amines was observed.

[Histological, electron microscopic and biochemical study of the rat liver in experimental cardiomyopathy]. / Gistologischeskoe, élektronno-mikroskopicheskoe i biokhimicheskoe izuchenie pecheni krys s éksperimental'noi kardiomiopatiei.

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.

[Demonstration of arylsulfatase A deficiency in metachromatic leukodystrophy and prenatal diagnosis of the disease]. / Vyiavlenie nedostatochnosti arilsul'fatazy A p ri metakhromaticheskoi leikodistrofii i prenatal'nyi diagnoz zabolevaniia.

Biochemical diagnosis of two cases of metachromatic leukodystrophy /hereditary disease was carried out by means of detection of arylsulfatase A deficiency in leukocytes of impaired children. Prenatal diagnosis of metachromatic leukodystrophy was first performed using estimation of the arylsulfatase A activity in bioptic samples of chorion in 8 week pregnancy. Development of the healthy fetus was diagnosed on the basis of detection of the normal enzymatic activity in the chorion of pregnant woman which had earlier two children with metachromatic leukodystrophy. This conclusion was confirmed by analysis of the fetal tissues in which the normal arylsulfatase A activity was found.

[Biochemical diagnosis of mannosidosis in 2 families]. / Biokhimicheskaia diagnostika mannozidoza v dvukh sem'iakh.

On examination of children with primary diagnosis of mucopolysaccharidosis distinct deficiency of acid alpha-D-mannosidase was found in leukocytes of the children and decrease in the enzymatic activity down to the level of heterozygote carriers was observed in their parents. The activity of neutral alpha-D-mannosidase was within the range of normal values in the children and parents. The examination carried out enabled to establish the diagnosis the hereditary lysosomal disease of accumulation--mannosidosis--in the children.

[Differential diagnosis of glycogenoses]. / Differentsial'naia diagnostika glikogenozov.

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.

[Disordered glucose-6-phosphate transport as a possible cause of glycogenosis type Ib]. / O narushenii transporta gliukozo-6-fosfata kak vozmozhnoi prichine glikogenoza tipa Ib.

More than ten patients with glycogen-storage disease, which were classified as patients with glycogenosis of the I type--deficiency in glucose-6-phosphatase) on the basis of clinical data and biochemical analyses in vivo, were detected within the last few years. But activity of glucose-6-phosphatase was found to be normal in biopsy of samples of the liver tissue obtained from these patients. This disease was termed as glycogenosis of the Ib type. A hypothesis is advanced, according to which the discrepancy in data on biochemical study of the patients in vivo and in vitro is due to absence of a specific permease in liver tissue, which transfers glucose-6-phosphate from cytosol onto the innesurface of membranes of cytoplasmic network, where glucose-6-phosphatase is located.

[Characteristics of glycogen metabolic regulation in rats with experimental autoimmune cardiomyopathy]. / Osobennosti reguliatsii obmena glikogena u krys s éksperimental'noi autoimmunnoi kardiomiopatiei.

Alterations in glycogen metabolism and in its regulation were found in heart muscle and liver tissue, but not in sceletal muscle, of rats with experimental autoimmune cardiomyopathy. In development of the pathological process content of glycogen was unaltered in heart muscle as compared with the normal state; at the same time, activities of glycogen synthetase, phosphorylase and acid alpha-glucosidase were increased. After administration of adrenaline, noradrenaline and serotonin into animals with the cardiomyopathy, the phosphorylase from heart muscle was not activated, contrary to the respone of the enzyme under normal conditions. Content of glycogen was drastically increased in liver tissue of rats with experimental cardiomyopathy, as compared with the normal state. Aministration of biogenic amines into the animals led to a decrease in concentration of glycogen in liver tissue and to increase in activity of acid alpha-glucosidase, but did not affect the activities of phosphorylase A and glycogen synthetase. A possibility is considered for a decrease of the abnormally high content of glycogen in liver tissue of the impaired rats using treatment with biogenic amines.

[Activity of glycosidases in amniotic fluid cell cultures]. / Aktivnost' glikozidaz v kul'ture kletok amnioticheskoi zhidkosti.

Deficiency of glycosidases is a fundamental feature of the hereditary diseases of glycoconjugate accumulation. The data obtained on activity of glycosidases in cell culture of normal amnionic fluid might be used as standards in prenatal diagnostics of hereditary glycolipidoses and glycoproteinoses. Use of cell culture of amnionic fluid for prenatal diagnosis of Tay-Sachs disease is described.

[Glycogen disease caused by disorders in the liver phosphorylase system]. / Glikogenovaia bolezn', vyzvannaia defektami fosforilaznoi sistemy pecheni.

Concentration of glycogen and activity of enzymes, participating in its metabolism, were studied in punctates of liver tissue obtained from three patients with clinical manifestations of hepatic forms of glycogenosis. Accumulation of glycogen in liver tissue of the patients was caused by distinct decrease in the phosphorylase activity. In two patients low activity of phosphorylase A was due to impairment of one of the enzymes, activating the phosphorylase in liver tissue, and in one patient phosphorylase B itself exhibited low activity. The in vitro data on glycogen metabolism were correlated with those, obtained in study of glycogen turnover in vivo, after loading with adrenaline. The data obtained enable to develop methods for treatment of the patients with impairments in activity of liver phosphorylase.

[Effect of biogenic amines on phosphorolysis and gamma-amylolysis of glycogen in the cardiac muscle of rats under anesthesia]. / Vliianie biogennykh aminov na fosforoliz i gamma-amiloliz glikogena v serdechnoi myshtse krysy pri anestezii.

Adrenaline, poradrenaline, serotonin, triptamine and 3-hydroxytyramine activated glycogen phosphorolysis in heart of nonanesthetized rats due to increase in the phosphorylase A activity. Anesthesia with nembutal and ether prevented the stimulating effect of biogenic amines (excluding serotonin) on phosphorolysis. Adrenaline, administered into animals anesthetized with nembutal, inhibited the glycogen phosphorolysis. Noradrenaline caused a decrease in gamma-amylolysis of glycogen in anesthetized and untreated rats. The inhibitory effect of adrenaline on glycogen gamma-amylolysis occurred in rat heart muscle only under the conditions of anesthesia.

[Serum lipoproteins in the generalized form of type III glycogenosis]. / Lipoproteidy syvorotki krovi pri generalizovannoi forme glikogenoza III tipa.

Distinct accumulation of glycogen, anomalous in structure, and absence of amylo-1,6-glucosidase activity were observed in studies of material obtained by biopsy from liver and muscle tissues of a patient with generalized form of glycogenosis type III. Anamalous glycogen (limitdextrin) was also found in erythrocytes. Concentration of lipoproteins, especially of low density lipoproteins 12.20 S and 0-12 S, was increased in blood serum. Spectrum of lipoproteins acquired a tendency to normalization simultaneously with clinical improvement after intravenous administration of glucose and treatment with cholesterolamine per os.