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)

Mitochondrial and microsomal fractions were isolated from guinea pig myocardium by differential pelleting. The mitochondrial fraction was subjected to analytical subfractionation by sucrose density gradient centrifugation and the gradient fractions assayed for marker enzymes for the various mitochondrial compartments, viz outer membrane (monoamine oxidase), intermembranous space (adenylate kinase), inner membrane (Mg2+-dependent ATPase and cytochrome c oxidase) and mitochondrial matrix (malate dehydrogenase), and for creatine kinase. Both creatine kinase and adenylate kinase were released by suspending the mitochondria in 50 mmol . litre-1 sodium phosphate buffer. Sonication or disruption with the detergent, digitonin released the adenylate kinase but the creatine kinase remained associated with the inner membranes. Subsequent salt treatment desorbed the creatine kinase from these membranes. It is concluded that creatine kinase is located to the outer aspect of the inner mitochondrial membrane. Analytical subfractionation of the microsomal fraction clearly resolved markers for the sarcolemma (5'-nucleotidase), outer mitochondrial membrane (monoamine oxidase) and endoplasmic reticulum (neutral alpha-glucosidase and RNA). Creatine kinase was localised in the endoplasmic reticulum particularly the smooth membranes.
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PMID:Sub-mitochondrial and sub-microsomal distribution of creatine kinase in guinea pig myocardium. 51 58

Mesenteric vascular occlusion and intestinal obstruction are difficult-to-diagnose medical emergencies. We evaluated a large panel of biochemical markers as diagnostic and prognostic indicators in a rat model of intestinal infarction and partial, complete, and strangulated intestinal obstruction. After intestinal infarction and obstruction, laboratory data are distinctly abnormal. Serum urea nitrogen dramatically increased in all groups, but most rapidly in the groups with infarction and strangulated obstruction. Inorganic phosphorus proved to be a sensitive indicator of infarction, but less so for any form of obstruction. While all members in the infarct group demonstrated significant increases in the aminotransferases, creatine kinase, and alkaline phosphatase, such increases in the groups with obstruction were less pronounced. Serum maltase assays revealed decreasing activities in all members of the groups with complete and strangulated obstruction, but in only 17% of the rats with partial obstruction. Serum maltase activity increased from abnormally low values after surgery to abnormally high values in the six animals that recovered from partial intestinal obstruction. The proportion of hexosaminidase A (of total beta-N-acetylhexosaminidase, EC 3.2.1.30) was generally abnormal in rats with complete and strangulated obstruction.
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PMID:Acute intestinal infarction or obstruction: search for better laboratory tests in an animal model. 296 10

The biochemical and morphological properties of cultured skeletal muscle from calves born into a herd of cattle, which are heterozygous for glycogenosis type II, were studied over 17 days. Muscle was cultured by a modification of the explant technique in which the mononucleated cells that grew from the explants were subcultured. Skeletal muscle from animals up to 15 months of age grew in culture to produce mature, cross-striated and spontaneously contractile myotubes. The creatine kinase activity was 310 (+/- 45.4) mU/mg protein on day 7 when fusion was complete, and 210 (+/- 15.1) mU/mg protein on day 17 of culture. Mature muscle cultures from animals affected by glycogenosis type II showed the characteristic biochemical and morphological abnormalities previously observed in vivo. Acid alpha-glucosidase activity was absent whereas the activities of neutral alpha-glucosidase, lysosomal alpha-mannosidase and creatine kinase were the same as in cultures of unaffected muscle. The concentration of glycogen was higher in cultured affected muscle than in cultured unaffected muscle. On days 7, 9 and 17 of culture the glycogen concentrations were 66.7 (+/- 2.7), 89.0 (+/- 5.5) and 120.3 (+/- 34.2) micrograms/mg protein respectively in affected muscle and 51.8 (+/- 3.6), 59.9 (+/- 5.4) and 55.4 (+/- 1.0) micrograms/mg protein respectively in non-affected muscle. Electron microscopic studies showed that the glycogen accumulated within the lysosomes. These results indicate that bovine glycogenosis type II is expressed in tissue culture since the cultured skeletal muscle from affected animals shows the same abnormalities as skeletal muscle in vivo.
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PMID:Bovine glycogenosis type II. Biochemical and morphological characteristics of skeletal muscle in culture. 639 34

We performed a clinical, biochemical, and genetic study in 16 patients from 11 families with adult-onset acid maltase deficiency. All patients were compound heterozygotes and carried the IVS1(-13T --> G) transversion on one allele; the second allele harbored either a deletion of a T at position 525 in exon 2 (7 probands, 64%) or a deletion of exon 18 (1 proband, 9%). Deterioration of handicap was related to age, and decrease in vital capacity to duration of the symptomatic stage. Respiratory insufficiency was never the first manifestation. The levels of activity of serum creatine kinase and of alpha-glucosidase in peripheral blood cells or muscle were helpful for the diagnosis, but did not have prognostic value. The adult form of acid maltase deficiency appears to be both clinically and genetically rather homogeneous; decrease of alpha-glucosidase activity is the final common pathway leading to destruction of muscle fibers and progression of muscle weakness over a period of years.
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PMID:Genotype-phenotype correlation in adult-onset acid maltase deficiency. 766 32

Clinical, diagnostic and biochemical features of generalised glycogenosis are described in 96 Brahman-type calves. Typically the calves were presented when about 6 months of age, with ill-thrift and muscular weakness as the most common signs. Acidic alpha-glucosidase activity was reduced in peripheral blood lymphocytes and skeletal muscle. Muscle glycogen concentration was consistently higher in affected animals than in clinically normal cattle. Other observations in affected calves included elevation of serum aspartate aminotransferase and creatine kinase activities and excessive amounts of high molecular weight oligosaccharides in urine. Fine cytoplasmic vacuolation of neurones in the brain and spinal cord, skeletal muscle, myocardium and of Purkinje fibres were consistent histological observations. Periodic acid-Schiff staining revealed the presence of glycogen-like material in peripheral blood lymphocytes of all affected calves, indicating that this is a useful aid for the diagnosis of glycogenosis. While 3 of the 96 calves showed somewhat different clinical signs, the similarity of pathology and the biochemical and clinical evidence in the remainder suggested that, in these animals, the disease was expressed as a single syndrome.
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PMID:Clinical, diagnostic and biochemical features of generalised glycogenosis type II in Brahman cattle. 828 22

Pompe disease is classified into infantile-, childhood- and adult-onset forms based on onset age and the degree of organ involvement. Differing from the infantile-onset form which is characterized by marked organ involvement, the childhood-onset form usually presents with muscle weakness and elevation of serum creatine kinase (CK), mimicking those of progressive muscular dystrophy. We report our successful early diagnosis and initiation of enzyme replacement therapy (ERT) in a young girl with childhood-onset Pompe disease before the development of skeletal muscle symptoms. She was referred to our hospital at the age of 2 years 4 months because of hyperCKemia detected incidentally. She was active and lacked developmental delay and muscle weakness; however, hepatomegaly was noted. The combination of high-density changes in the liver and skeletal muscle on computed tomography (CT) images was suggestive of glycogen storage disorder, especially childhood-onset Pompe disease. Low alpha-glucosidase (GAA) activity on dried blood spots facilitated the diagnostic process, and genetic analysis of GAA allowed a definitive diagnosis, without performing muscle biopsy. We promptly started ERT at the age of 2 years 6 months. After 1 year, she still had not developed any skeletal muscle symptoms, and serum CK level was almost normal. Since the efficacy of ERT is thought to depend on the extent of muscle damage at its commencement, we expect that ERT may have prevented the manifestation of skeletal muscle involvement in this patient.
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PMID:High-density CT of muscle and liver may allow early diagnosis of childhood-onset Pompe disease. 2170 64

Glycogen storage disease type 2/Pompe disease is a progressive muscle disorder with a wide range of phenotypic presentations, caused by an inherited deficiency of acid alpha-glucosidase. Since 2004 only a limited number of patients have been treated with recombinant human alpha-glucosidase from rabbit milk whereas since 2006 enzyme replacement therapy (ERT) with alglucosidase alfa has been licensed for the treatment of Pompe disease. This systematic review evaluates the clinical efficacy and safety of alglucosidase alfa treatment of juvenile and adult patients with late-onset Pompe disease (LOPD). Studies of alglucosidase alfa treatment of LOPD patients-published up to January 2012-were identified by electronic searching of the EMBASE and MEDLINE databases, and manual searching of the reference lists. Data on ERT outcomes were extracted from selected papers and analyzed descriptively. No statistical analysis was performed owing to data heterogeneity. Twenty-one studies containing clinical data from 368 LOPD patients were analyzed. Overall, at least two-thirds of patients were stabilized or had improved creatine kinase levels and muscular and/or respiratory function following treatment with alglucosidase alfa. ERT was well tolerated; most adverse events were mild or moderate infusion-related reactions. In conclusion, alglucosidase alfa treatment is effective and well tolerated and attenuates progression of LOPD in most patients. Further research is required to investigate factors such as age at diagnosis, phenotypic presentation, and genotypic characteristics, identification of which may enable better clinical and therapeutic management of LOPD patients.
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PMID:Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review. 2292 64