Glycogen Storage Disease
Glucose and glycogen metabolism in erythrocytes from normal and glycogen storage disease type III subjects
... III glycogen storage disease, which have sufficient glycogen content to be analyzed by b-amylolysis, we demonstrated that the glucosyl units are first incorporated in the outer tiers, then ...
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Sweat Electrolytes in Glycogen Storage Disease, Type I
... DATA FROM SWEAT TESTS ON CHILDREN WITH GLYCOGEN STORAGE DISEASE*. Sex 1045 Date Age (yr) Time (nun) Sweat (ml) Patient I ).(‘,. Simultaneous determinations of serum sodium and chloride a[r] ...
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Glycogen storage disease type III: modified Atkins diet improves myopathy
... Background: Frequent feeds with carbohydrate-rich meals or continuous enteral feeding has been the therapy of choice in glycogen storage disease (Glycogenosis) type III. Recent guidelines on ...
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Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen branching enzyme gene
... Glycogen storage disease type IV (GSD-IV) is an autosomal recessive disease resulting from deficient glycogen-branch- ing enzyme (GBE) ...liver disease is not always ...the ...
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Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0
... Glycogen storage disease type 0 (GSD-0) is a rare form of fasting hypoglycemia presenting in infancy or early child- hood and accompanied by high blood ketones and low ala- nine and lactate ...The ...
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DIAGNOSIS OF GLYCOGEN STORAGE DISEASE TYPE I BY SERUM IMMUNODIFFUSION
... immunoelectrophoresis this antiserum was found to react with an antigen in normal human serum, and also with serum from a child with glycogen storage disease, type III, i.e., debranching[r] ...
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PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry
... (glycogen storage disease [GSD] VII, Online Mendelian Inheritance in Man #232800, or Tarui disease) is an autosomal recessive disorder characterized by exercise-induced muscle weakness, pain, ...
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Impaired carbohydrate metabolism of polymorphonuclear leukocytes in glycogen storage disease Ib
... This study measures hexose monophosphate HMP shunt activity, glycolytic rate, and glucose transport in PMN and lymphocytes of patients with glycogen storage disease GSD type Ib as compar[r] ...
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GALACTOSE TOLERANCE IN GLYCOGEN STORAGE DISEASE
... In the patient with hepatorenal glycogen storage disease, galactose disappeared from the blood in a normal manner and the concentration of glucose decreased. while that of lactate increa[r] ...
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Sweet Syndrome Associated With G-CSF Treatment in a Child With Glycogen Storage Disease Type Ib
... dysfunction by granulocyte colony-stimulating factor in a patient with glycogen storage disease type Lb. Schroten H, Roesler J, Breidenbach T, et al[r] ...
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GLYCOGEN STORAGE DISEASE OF THE HEART
... present in the liver was much smaller than in cases of the hepatic type of glycogen storage.. disease.[r] ...
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Excess purine degradation in exercising muscles of patients with glycogen storage disease types V and VII
... muscle glycogen storage disease, we performed ischemic forearm exercise tests and quantitated metabolites appearing in cubital venous ...with glycogen storage disease type V and ...
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Diabetes mellitus in a patient with glycogen storage disease type Ia: a case report
... Glycogen storage disease type 1 (GSD-I) is a rare genetic condition that develops due to an inborn error of metabol- ism causing deficient activity of the enzyme, glucose 6- phosphatase ...of ...
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LEUKOCYTE DEBRANCHING ENZYME IN GLYCOGEN STORAGE DISEASE
... Leukocyte debranching enzyme was normal in patients with glycogen storage disease of Types I, VI hepatic phosphorylase deficiency, and an unknown type.. We acknowledge the kind help and [r] ...
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Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle
... Glycogen storage disease type III (GSD-III), an autosomal recessive disease, is caused by deficient glycogen debranch- ing enzyme (GDE) ...
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McArdle’s Disease (Glycogen Storage Disease type V): A Clinical Case
... McArdle’s disease or Glycogen Storage Disease Type V (GSDV) is caused by a de iciency in one of the enzymes responsible for the metabolism of glycogen in the ...this disease, ...
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Efficacy of Gene Therapy in Dogs with Glycogen Storage Disease Type Ia
... The disease recognized by von Gierke has subsequently been identified as GSD Type ...Gierke Disease, is an autosomal recessive disorder caused by a deficiency of the G6Pase ...hepatic glycogen ...
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GLYCOGEN IN ERYTHROCYTES OF PATIENTS WITH GLYCOGEN STORAGE DISEASE
... was also demonstrated in the muscle of three of the patients and the liver of two of these cases. The glycogen isolated from the erythro-. cyte. and leukocytes of the patient with Type I[r] ...
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A highly prevalent equine glycogen storage disease is explained by constitutive activation of a mutant glycogen synthase
... The inherited skeletal muscle disorder known as PSSM1, caused by a missense mutation in the equine GYS1 gene [8] is histopathologically characterised by increased amylopectate and glycogen in skeletal muscle ...
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ATP Depletion, a Possible Role in the Pathogenesis of Hyperuricemia in Glycogen Storage Disease Type I
... degradation of preformed nucleotides. We postulated that a similar mechanism of ATP depletion might be present in patients with glucose-6-phosphatase deficiency (GSD-I) as a result of ATP consumption during ...
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