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:3.2.1.20 (alpha-glucosidase)
4,237 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In a study of eight glycosidases in serum samples from 72 cystic fibrosis patients, 85 cystic fibrosis parents and 34 healthy and diseased controls, significant elevations of mean alpha-glucosidase levels were found in cystic fibrosis patients. All other glycosidases did not show any significant change. Mean alpha-glucosidase levels in obligate heterozygotes were the same as in control individuals. Moreover, alpha-glucosidase levels in cystic fibrosis patients correlated with the degree of clinical impairment as measured by the Schwachman score.
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PMID:Glycosidases in serum of cystic fibrosis patients. 11 May 2

Meconium ileus represents the earliest clinical manifestation of cystic fibrosis. The differences found in the composition and amount of protein, mucoprotein, mucopolysaccharides, and reducing sugars in meconium from newborns with cystic fibrosis might be of significance relative to the pathogenesis and early diagnosis of this disease. We studied the enzymatic activity of disaccharidases (lactase, sucrase, maltase, and palatinase) in meconium of infants with cystic fibrosis and controls. We found an increase in the specific activity of these enzymes in the meconium from infants with cystic fibrosis as compared to the specific activity in meconium from normal infants. The increase in the activities, expressed as micromols per gram of protein per minute was: lactase, 100 times higher; sucrase, 18 times; maltase, 4.8 times, and palatinase, 8.9 times.
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PMID:Studies in meconium: disaccharidase activities in meconium from cystic fibrosis patients and controls. 119 37

A series of proteins (albumin, transferrin, alpha 1-antitrypsin, alpha-fetoprotein and pancreatic oncofetal antigen) and enzymes (gamma-glutamyltranspeptidase, aminopeptidase M, alkaline phosphatase, alpha-glucosidase and protease) was measured in fetal meconium extracts. There were 19 fetuses thought to have cystic fibrosis (CF), 13 with neural tube defects, three with chromosome abnormalities and 19 normal controls, all with gestational ages between 18 and 21 weeks. With the exception of alpha-fetoprotein, all the proteins and enzymes were significantly elevated in the CF meconium extracts. The most definitive indicator of a CF fetus was the albumin concentration, where the mean level was five times that found in the control groups. However, five of 19 fetuses assumed to have CF had albumin in the normal range. In these cases the meconium protease levels were grossly elevated. Furthermore, in the same five fetuses meconium concentration of pancreatic oncofetal antigen, a protein synthesized in the fetal pancreas, was also greatly raised. We suggest that post-mortem examination of a fetus thought to have CF should include measurement of meconium albumin, protease and pancreatic oncofetal antigen.
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PMID:Biochemical analysis of meconium in fetuses presumed to have cystic fibrosis. 242 27

The activities of the disaccharidases maltase and sucrase in 4 amniotic fluid from cystic fibrosis (CF) pregnancies have been compared to those of 120 non CF-pregnancies. Very low levels were found in 3 of the CF-fluids. The fourth CF-fluid was normal in all measured microvillar enzyme activities. Elevated levels of disaccharidases in meconium from one of the patients born with CF, supports the idea that these enzymes are trapped in the intestinal cavity by sticky meconium.
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PMID:Disaccharidase deficiency in amniotic fluid from cases of cystic fibrosis. 285 86

Microvillar enzymes (disaccharidases, alkaline phosphatase, and gamma-glutamyltransferase) were assayed in amniotic fluid from pregnancies with normal and abnormal fetuses to determine their specificity and reliability for the prenatal detection of intestinal obstructions and cystic fibrosis. All fetuses with imperforate anus, duodenal atresia, jejuno-ileal atresia, multiple intestinal atresia, or other forms of intestinal obstructions, with or without associated ventral wall defect or aneuploidy syndrome, showed diminished microvillar enzyme activities below the normal range of control amniotic fluid samples. The exclusively intestinal hydrolases maltase, sucrase, palatinase, and alkaline phosphatase were the most reliable and sensitive markers to detect intestinal obstructions whereas more widely distributed trehalase and gamma-glutamyltransferase activities were less sensitive. The combination of intestinal disaccharidase maltase, sucrase or palatinase and ALP assays is more accurate for prenatal diagnosis of CF than a combination of intestinal ALP and GGTF assays.
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PMID:Prenatal detection of intestinal obstructions, aneuploidy syndromes, and cystic fibrosis by microvillar enzyme assays (disaccharidases, alkaline phosphatase, and glutamyltransferase) in amniotic fluid. 288 May 7

We have observed seven pregnancies at risk for fetal cystic fibrosis where second-trimester amniotic fluid microvillar enzyme activities presented an unusual pattern. Low gamma-glutamyltranspeptidase and borderline alpha-glucosidase values were associated with normal aminopeptidase M and intestinal alkaline phosphatase values. All seven pregnancies went to term; five of the seven infants were affected with cystic fibrosis.
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PMID:An abnormal pattern of amniotic fluid microvillar enzymes signalling fetal cystic fibrosis. 288 81

We determined the activity concentrations of alkaline phosphatase (ALP), ALP isoenzymes, gamma-glutamyltransferase (GGT), and alpha-glucosidase (AGL) in 1200 unselected amniotic fluids and in amniotic fluids from 40 pregnancies at high risk for cystic fibrosis (CF). From the results we established the normal range and CF-predictive cutoff values for these enzymes in the second trimester of pregnancy. In all predicted normal pregnancies that went to term, normal children were born. Among the predicted affected pregnancies, 14 were terminated and two went to term, one resulting in a CF-affected child and the other in a healthy child. Evidence for CF was found in all 13 aborted fetuses examined (the parents of one refused to allow autopsy). We noted no differences in the amniotic fluid enzyme activities for the Arab and various Jewish ethnic groups living in Israel. We conclude that prenatal diagnosis of CF among the Israeli population at risk for CF is feasible by means of a reliable, fast, and economic test in the second trimester of pregnancy.
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PMID:Enzyme analysis of amniotic fluid for prenatal diagnosis of cystic fibrosis in high-risk pregnancies. 290 7

Cultured skin fibroblasts derived from patients with cystic fibrosis contain 2.1-fold more acid alpha-glucosidase (EC 3.2.1.3) than normal fibroblasts. This difference is amplified to 2.3-fold when the cells are extracted in Triton X-100. In a study of 14 fibroblast cell lines derived from CF homozygotes and heterozygotes, normal individuals and patients with other recessively inherited disorders, normal individuals could be distinguished from either CF homozygotes or heterozygotes based on the ratio of acid alpha-glucosidase to beta-hexosaminidase when fibroblasts were extracted in either water or Triton X-100. However, the best distinction could be made with water extracts as there was no overlap among individual data points in the three categories. The acid to neural alpha-glucosidase ratio only distinguished CF homozygotes from normal individuals when cells were extracted in Triton X-100. The use of a ratio relationship of acid alpha-glucosidase with beta-hexosaminidase allows the comparison of data from multiple experiments on different days of assay and on cells at different passage numbers. These results suggest that alpha glucosidase may have a role in the primary defect in cystic fibrosis.
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PMID:Alterations in specific activity of lysosomal alpha-glucosidase in cystic fibrosis. 307 37

We measured the activity of a non-lysosomal alpha-glucosidase with pH optimum near 6.0 in serum from a wide variety of patients, using the fluorogenic substrate, 4-methylumbelliferyl-alpha-D-glucopyranoside. Acutely ill patients with cystic fibrosis (CF) demonstrated significant increases in alpha-glucosidase compared with CF outpatients. The former group of CF patients experienced far more severe chronic pulmonary disease than did the latter, whereas both groups had similar degrees of gastrointestinal impairment. Patients with pancreatitis associated with trauma or complicated by severe necrosis, hemorrhage, or abscess also displayed greater increases in alpha-glucosidase than did patients with uncomplicated (edematous) pancreatitis. For CF outpatients and patients with either edematous pancreatitis or pancreatic cancer, the alpha-glucosidase activity was similar to that for the general hospital-patient population. Corresponding changes were not observed for other measured serum glycosidases (alpha-fucosidase, alpha-mannosidase, beta-glucuronidase, beta-N-acetylglucosaminidase). Measurement of serum alpha-glucosidase may be of value in assessing the clinical course in CF and in differentiating necrotizing from edematous pancreatitis.
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PMID:Measurement of alpha-glucosidase activity in serum from patients with cystic fibrosis or pancreatitis. 351 92

The potential value of microvillar enzymes in the prenatal diagnosis of cystic fibrosis (CF) has previously been demonstrated and is corroborated in the present comparative study. Maltase and alkaline phosphatase (ALP) activities were studied in the amniotic fluids of 57 pregnancies with a 1 in 4 risk for CF or with a known CF outcome and in 489 controls. A simple assay for maltase activity (MU-maltase) with the fluorogenic substate 4-methylumbelliferyl alpha-glucoside, offers great technical advantages and an at least equal detection rate of CF, when compared to the previously used test with maltose as substrate. Intestinal ALP was estimated either as phenylalanine inhibitable activity (PI-ALP) or as the proportions of residual activity in the presence of the inhibitors phenylalanine or homoarginine. MU-maltase and PI-ALP appeared the most successful methods: both tests were able to detect 14 of the 16 (88 per cent) pregnancies with fetal CF. Each of the two tests alone also allowed a correct prediction in 24 of the 25 pregnancies at risk but with normal outcome; however all 25 cases could be correctly predicted by a combined evaluation. It is suggested that more than one intestinal enzyme activity should be evaluated to allow optimal results in the prenatal monitoring of pregnancies at high risk for CF.
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PMID:Prenatal detection of cystic fibrosis; comparative study of maltase and alkaline phosphatase activities in amniotic fluid. 354 22


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