Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound

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Query: EC:2.6.1.2 (alanine aminotransferase)
26,722 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Glycogen storage disease with normal acid maltase first reported by Danon et al. was characterized clinically by mental retardation, cardiomyopathy, and proximal myopathy. Since the first report, 17 patients have been reported including 5 patients from Japan. In this paper we described a 26-year-old man who had dilatated cardiomyopathy with a pacemaker implanted at age 22 years. He was admitted to our hospital complaining of easy fatigability in February 1992. Neurological findings showed that he had mental retardation. Serum CK, GOT, GPT and aldolase levels were elevated. Histopathological study of biopsied skeletal muscle showed intracytoplasmic vacuoles with increased acid phosphatase and slightly increased PAS positive material. Electron microscopic study revealed numerous glycogenosomes (autophagic vacuoles containing glycogen). These pathological findings were similar to acid maltase deficiency, but activities of carbohydrate metabolic enzyme including acid maltase activity were normal in the biopsied muscle. From these results, he was diagnosed as having glycogen storage disease with normal acid maltase. We also found abnormal platelet function and glycogen accumulation in the platelets, which have not been previously described. The disease is probably a systemic disorder affecting not only skeletal and cardiac muscles, but platelets.
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PMID:[A case of glycogen storage disease with normal acid maltase accompanied with the abnormal platelet function]. 799 92

Semen of Jamunapari goat bucks was frozen in three diluents egg yolk-tris, egg yolk/citrate/glucose, and skim milk/egg yolk. In fresh ejaculated semen over 90% of the spermatozoa had normal head and acrosome morphology. Quantification of goat sperm structure with Giemsa stain revealed significant (P < 0.01) damage to acrosome on freezing which varied between 38 to 43% in three diluents. Scanning electron microscopy defined and revealed greater damage during freezing with 50% sperm heads having normal acrosome structure in three diluents. The ultrastructural changes detected in frozen goat sperm was protrusion at the anterior cap, broken tail, swelling of acrosome, and loss of acrosomal contents. The leakage of five enzymes GOT, GPT, hyaluronoglucosaminidase, acid phosphatase, and alkaline phosphatase measured simultaneously revealed a positive correlation between enzyme release and acrosomal damage.
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PMID:Acrosome damage and enzyme leakage of goat spermatozoa during dilution, cooling and freezing. 818 56

Transformation of ten colchicinoids by isolated rat liver microsomes resulted in the mixture of C-2, C-3, and C-10 O-demethylated metabolites. Colchicinoids administered i.p. to rats (2.5 mumol/kg) increased serum and liver activities of alkaline phosphatase and decreased liver microsomal demethylase activity as well as cytochrome P-450 content. The changes of acid phosphatase level were less pronounced. The aspartate and alanine aminotransferase activities were significantly increased only in colchicine treated rats. No relations between enzyme activity changes and colchicinoid hydrophobicities quantified by partition coefficients (log P) were found. However, the enzyme activity changes were related to the type of substitution at C-3, C-7, and C-10 of colchicinoids. Particularly, O-demethylation at C-3 resulted into the fall of alkaline phosphatase response. On the other hand, the microsomal demethylation and cytochrome P-450 content were related to the modification of the nitrogen substituent at C-7.
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PMID:Biochemical evaluation of colchicine and related analogs. 838 76

A 13-year-old boy with mental retardation developed idiopathic cardiomyopathy and glycogen storage myopathy, but with normal lysosomal enzyme activities, consistent with a syndrome of lysosomal glycogen storage disease with normal acid maltase coined by Danon et al (1981). He was in good health except for WPW syndrome diagnosed at 7 years of age. He had heart murmur with abnormal ECG, elevated serum GOT, GPT, LDH, CK and aldolase levels. An echocardiogram showed obstructive hypertrophic cardiomyopathy. Lysosomal enzyme activities including acid alpha-glucosidase in fibroblasts were within normal limits. In the biopsied biceps brachii muscle, there was a mild variation in fiber size. An approximately 10 percent of myofibers had tiny vacuoles which contained periodic acid Schiff positive granules and were slightly high in acid phosphatase activity. The vacuoles were encircled by membranes with high neuron specific enolase (NSE) and acethylcholin-esterase (AchE) activities. On electron microscopy, numerous autophagic vacuoles scavenging glycogen granules were recognized as seen in acid maltase deficiency. Because the vacuolar membranes were high in NSE and AchE activities, lysosomal membrane formation from the cell membrane may be defective. When one has a patient with mild to moderate mental retardation, idiopathic hypertrophic cardiomyopathy and high serum CK level, muscle biopsy must be performed to rule out the present disorder.
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PMID:[A patient with lysosomal glycogen storage disease with normal acid maltase]. 839 37

Glurenorm, a IInd generation sulfanylurea preparation, was used for a year as a sugar-reducing drug in 20 patients with non-insulin-dependent diabetes mellitus and concomitant diseases of the liver (cirrhosis, chronic hepatitis, n = 5) and biliferous duct (cholelithiasis, a state following cholecystectomy, chronic cholecystitis, n = 15). A year follow-up has not shown deterioration of liver function as indicated by results of liver tests (AST, ALT, acid phosphatase, gamma-glutamyltranspeptidase, bilirubin, cholesterol, triglycerides). The hypoglycemic effect of the drug proved to be inferior to that of sulfanylurea derivatives, but the absence of side effects permit higher doses of glurenorm (up to 4-6 tablets daily) as against other oral sugar-reducing drugs.
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PMID:[Glurenorm in the treatment of patients with non-insulin-dependent diabetes mellitus with diseases of the liver and bile ducts]. 841 21

The aim of the study was to evaluate the enzyme activity of cellular membranes (GGT), cytosol (ALT, AST) and lysosome (AP, AcP) in the cytosol, whole homogenate and blood serum during declamping shock, following release of abdominal aorta cross-clamping. The aorta was clamped for 60 minutes. An increase in GGT, AP and AcP activities in the cytosol and whole homogenate of the renal cortex, renal medulla, liver, lung, heart and the skeletal muscle occurs after declamping. Rise in the enzymatic activity, especially of acid phosphatase is higher when the aorta above renal arteries was clamped. However, its activity in the blood serum remains unchanged. Alterations in the distribution and the activity of the studied enzymes may indicate that aortic clamping damages the endoplasmic reticulum and lysosomal membranes. Yet, cellular membranes preserve their structural and functional integrity.
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PMID:Activity of membrane, cytosol and lysosome enzymes in organs and blood serum during declamping shock. 852 88

The aim of the investigation was to determine the effect of cryodestruction of the healthy prostate on general condition of dogs. The research was performed on 18 dogs divided into two groups: control and experimental. In the dogs from the experimental group after the laparotomy procedure the prostate was frozen in the repeated cycle using the flat cryoapplicator. The observations were carried out for 6 months. General condition of dogs was controlled, blood was examined and urine analysed. The performed determinations included the activity of alanine aminotransferase, aspartate aminotransferase, alkaline phosphatase, acid phosphatase and prostatic isoenzyme of acid phosphatase. It has been observed that the cryodestruction procedures of the prostatic gland are well tolerated by dogs. During 3 weeks after the surgery the number of leucocytes in blood increased. An increased drop of the blood cells was observed for 2 weeks after the procedure. Characteristic behaviour was observed in case of the prostatic isoenzyme of acid phosphatase. Immediately after the procedure the increased activity of that enzyme was observed and 24h later its decrease which remained for about 2 weeks. Then the isoenzyme activity increased again and that increase lasted for the period of 2 months.
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PMID:Organism reaction to cryodestruction of the prostatic gland in dogs. 859 Sep 8

Antibodies to the ubiquitous group of stress proteins known as heat shock proteins (Hsps) have been found to be associated with a number of diseases in humans. Hsps are known to be induced by certain xenobiotics, some of which are common in the working environment. The biological significance of the presence of such autoantibodies is presently unclear. In the present study, we used immunoblotting to investigate the presence of antibodies against the different stress proteins, Hsp27, Hsp60, Hsp71, Hsc (heat shock cognate) 73 and Hsp89 alpha and beta in groups of workers exposed to high temperature or carbon monoxide. These data were related to a detailed clinical evaluation and to various laboratory measurements including electrocardiogram (ECG), B echogram, white blood cell counts and typing, the activity of alanine aminotransferase (ALT), acid phosphatase (ACP) and alkaline phosphatase (ALP) and lymphocyte DNA damage. Antibodies to Hsp27 and Hsp71 were found more frequently in the high temperature and carbon monoxide-exposed groups than in controls (P < 0.05). The carbon monoxide-exposed group showed the highest incidence of anti-Hsp antibodies. Anti-Hsp60 antibodies were only detected in workers exposed to high temperature or carbon monoxide. The percentage of workers with abnormal ECG, B echogram changes and displaying hepatitis B antigen (HBsAg) was higher in the carbon monoxide group than in the control group (P < 0.05). There was a significant increase in the activity of ALT in the high temperature and carbon monoxide groups and in the activities of ACP and ALP in the carbon monoxide group (P < 0.05). The extent of DNA damage measured in lymphocytes was higher in workers from the high temperature and carbon monoxide-exposed groups. We suggest that the increased frequency of antibodies to Hsps is the result of these damages of the release of denatured Hsps and of a decrease in the phagocytic ability of macrophages in these workers. The data gathered in the present study show a statistical relation between the occurrence of antibodies against Hsps and the frequency of health problems in workers and suggest a potential role for the antibodies as useful biomarkers to assess whether workers are experiencing environmental stress.
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PMID:Presence of antibodies to heat stress proteins and its possible significance in workers exposed to high temperature and carbon monoxide. 898 5

Effect of fenvalerate on cell architecture, tissue biochemical parameters and its residual concentration was studied in broiler chicks following dermal application at 0.1 and 1% in ethanol once daily for 31 days. It did neither produce loss of body weight nor clinical signs of toxicity. Kidney contained maximal residue followed by heart, fat, liver and brain after 0.1%; and fat contained maximal residue followed by kidney, heart, liver and brain after 1% application. Fenvalerate (0.1%) increased the aspartate aminotransferase (AST) (except brain), alanine aminotransferase (ALT), alkaline phosphatase (AP), acid phosphatase (AcP) (only brain) activities, glycogen level (only liver) in liver, kidney, heart and brain tissues; and 1% increased the AST (except brain), ALT, AcP (except liver and kidney), AP (only heart), glycogen (only liver) and decreased AP (except heart), AcP (only kidney), cholesterol (except liver and heart), and acetylcholinesterase (AChE) (liver and brain) of liver, kidney, heart and brain tissue homogenates respectively. Histopathological examination in general showed aggregation of mononuclear cells in liver, around the kidney tubules and cardiac muscle fibre. In addition, fibrosis in the periportal area of liver, proliferation of ureter and tubular degeneration, and congestion of endocardial vessels were also observed. The intensity of cellular changes was more marked after 1% dermal application.
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PMID:Effect of short-term dermal toxicity of fenvalerate on residue, cell architecture and biochemical profiles in broiler chicks. 931 26

The genetic structure of the population of the urban and suburban area of the town of Pisa in Tuscany in Central Italy was studied in 1,174 adults residing in 4 zones in each of 3 sampling areas, using the phenotype and gene frequencies of 9 red cell enzymes. The area investigated has a surface of about 30 km2. The enzymes were: acid phosphatase (ACP1), adenosine deaminase (ADA), adenylate kinase (AK1), esterase D (ESD), glyoxalase I (GLOI), glutamic-pyruvic transaminase (GPT), 6-phosphogluconate dehydrogenase (6-PGD), phosphogluco-mutase 1 (PGM1), and phosphoglycollate phosphatase (PGP). For the analysis of the distributions of phenotype and gene frequencies, standardised variances, kinship profiles, analysis of correspondences and isonymy were used. It was found that in this area genetic differentiation (possibly due to recent immigration) can be perceived even at short geographic distances, indicated by the significant regression of kinship on distance, especially visible in the ADA and GPT systems.
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PMID:Detection of genetic structures at short distances in the Pisa area. 946 96


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