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CancerWEB ¿µ¿µ ÀÇÇлçÀü ¸ÂÃã °Ë»ö °á°ú : 15 ÆäÀÌÁö: 9
glycogen storage disease type VI <disease> A hepatic glycogen storage disease in which there is an apparent deficiency of hepatic phosphorylase activity. However, studies have not been able to distinguish between phosphorylase deficiency and phosphorylase kinase deficiency in patients with hepatic glycogenosis.
(12 Dec 1998)
glycogen storage disease type VII <disease> An autosomal recessive muscle glycogen storage disease in which there is deficient expression of muscle phosphofructokinase activity, resulting in increased concentrations of glucose-6-phosphate and fructose-6-phosphate and low concentrations of fructose-1,6-diphosphate in muscle tissue.
Glycogen storage in muscle is increased, perhaps due to activation of glycogen synthase by accumulated glucose-6-phosphate. It has been proposed that shunting of glucose-6-phosphate and fructose-6-phosphate into the pentose phosphate pathway may result in increased synthesis of purines and pyrimidines, causing hyperuricaemia and gout.
Erythrocytes from patients may show decreased phosphofructokinase activity and 2,3-diphosphoglycerate deficiency. Exercise intolerance is present and severe congenital muscular dystrophy has been reported.
Inheritance: autosomal recessive
(12 Dec 1998)
glycogen storage disease type VIII <disease> An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon.
Inheritance: X-linked recessive
(12 Dec 1998)
glycogen synthase <enzyme> An enzyme of the transferase class that catalyses the reaction of udpglucose and (1,4-alpha-d-glucosyl)n to yield udp and 1,4-alpha-d-glucosyl)n+1. The reaction is highly regulated by allosteric effectors, by phosphorylation reactions, and by insulin.
Chemical name: UDPglucose:glycogen 4-alpha-D-glucosyltransferase
Registry number: EC 2.4.1.11
(12 Dec 1998)
glycogen synthase-d phosphatase <enzyme> An enzyme that catalyses the conversion of phosphorylated, inactive glycogen synthase d to active dephosphoglycogen synthase I.
Chemical name: (UDPglucose:glycogen 4-alpha-D-glucosyltransferase-D) phosphohydrolase
Registry number: EC 3.1.3.42
(12 Dec 1998)
glycogen synthetase <enzyme> An enzyme which makes amylose out of glucose molecules (a type of sugar) and attaches them to glycogen (a type of polysaccharide).
(09 Oct 1997)
glycogenase alpha-amylase, beta-amylase
glycogenesis The formation of glycogen from food.
(27 Sep 1997)
glycogenetic Glycogenic;relating to glycogenesis.
Synonym: d-glycogenous.
(05 Mar 2000)
glycogenic Giving rise to or producing glycogen.
(05 Mar 2000)
glycogenic acanthosis <radiology> Benign, multiple small mucosal nodules in oesophagus, degenerative accumulation of glycogen in squamous epithelium
(12 Dec 1998)
glycogenolysis The breaking down, or catabolism, of the polysaccharide glycogen into molecules of the sugar glucose and molecules of glucose 1-phosphate within the body by enzymes. The enzymes are controlled by nerve impulses and hormones.
Origin: Gr. Lysis = dissolution
(09 Oct 1997)
glycogenosis Any of the glycogen deposition diseases characterised by accumulation of glycogen of normal or abnormal chemical structure in tissue; there may be enlargement of the liver, heart, or striated muscle, including the tongue, with progressive muscular weakness. Seven types (Cori classification) are recognised, depending on the enzyme deficiency involved, all of autosomal recessive inheritance, but with a different gene for each enzyme deficiency.
Synonym: dextrinosis, glycogen-storage disease.
(05 Mar 2000)
glycogeusia A subjective sweet taste.
Origin: Glyco-+ G. Geusis, taste
(05 Mar 2000)
glycoglycinuria A metabolic disorder characterised by glucosuria and hyperglycinuria; autosomal dominant inheritance.
(05 Mar 2000)
MeSH(Medical Subject Headings) ¸ÂÃã °Ë»ö (http://www.nlm.nih.gov) °á°ú : 5 ÆäÀÌÁö: 9
  • Glycogen Phosphorylase, Liver Form - »õâ An isoenzyme of GLYCOGEN PHOSPHORYLASE that catalyzes the degradation of GLYCOGEN in liver tissue. Mutation of the gene coding this enzyme on chromosome 14 is the cause of GLYCOGEN STORAGE DISEASE TYPE VI.
    Synonyms : Glycogen Phosphorylase a, Liver Form, Glycogen Phosphorylase b, Liver Form
  • Glycogen Phosphorylase, Muscle Form - »õâ An isoenzyme of GLYCOGEN PHOSPHORYLASE that catalyzes the degradation of GLYCOGEN in muscle. Mutation of the gene coding this enzyme is the cause of McArdle disease (GLYCOGEN STORAGE DISEASE TYPE V).
    Synonyms : Glycogen Phosphorylase a, Muscle Form, Glycogen Phosphorylase b, Muscle Form, Myophosphorylase a and b
  • Glycogen Storage Disease - »õâ A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement.
    Synonyms : Disease, Glycogen Storage, Diseases, Glycogen Storage, Glycogen Storage Diseases, Glycogenoses, Storage Disease, Glycogen, Storage Diseases, Glycogen
  • Glycogen Storage Disease Type I - »õâ An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood.
    Synonyms : Deficiency, Glucosephosphatase, Gierke Disease, Gierke's Disease, Von Gierke Disease, Deficiencies, Glucose-6-Phosphatase, Deficiencies, Glucosephosphatase, Deficiency, Glucose-6-Phosphatase, Disease, Gierke, Disease, Gierke's, Disease, Von Gierke
  • Glycogen Storage Disease Type II - »õâ An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4)
    Synonyms : Adult Glycogen Storage Disease Type II, Deficiency Disease, Acid Maltase, Deficiency Disease, Lysosomal alpha-1, 4-Glucosidase, Glycogen Storage Disease Type II, Adult, Glycogen Storage Disease Type II, Infantile, Glycogen Storage Disease Type II, Juvenile
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glycoconjugate A complex carbohydrate attached to a lipid, peptide, or protein.
Ãâó: www.genpromag.com/Glossary~LETTER~G.html
glycocalyx A cell coating consisting of glycoproteins and proteoglycans.
Ãâó: www.genpromag.com/Glossary~LETTER~G.html
glycolipid A molecule consisting of a short carbohydrate chain attached to a lipid.
Ãâó: www.genpromag.com/Glossary~LETTER~G.html
glycophorin A carbohydrate-bearing transmembrane protein found on the surface of erythrocytes.
Ãâó: www.genpromag.com/Glossary~LETTER~G.html
glycoprotein A protein with covalently bound carbohydrates.
Ãâó: www.genpromag.com/Glossary~LETTER~G.html
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