Disease relevance of Glycogen Storage Disease Type II

• Fibroblasts from patients with the adult, juvenile, and infantile form of glycogenosis type II (Pompe disease) were cultured under standardized conditions, and the activity of acid alpha-glucosidase (E.C.3.2.1.20) towards glycogen, maltose, and 4-methylumbelliferyl-alpha-D-glucopyranoside was measured [1].
• Glycogenosis type II (GSD II, Pompe disease) is an autosomal recessive lysosomal storage disease that results from a deficiency of acid alpha-glucosidase (GAA) [2].
• Apart from the well-known Pompe disease, several other storage disorders, mitochondrial disorders, and miscellaneous conditions (particularly the carnitine deficiency syndromes) may be seen in this way [3].
• PURPOSE: Infantile glycogen storage disease type II (GSD-II) is a fatal genetic muscle disorder caused by deficiency of acid alpha-glucosidase (GAA) [4].
• In addition to the infantile lethal form of glycogen storage disease with cardiomyopathy (GSD Type IIa, Pompe disease) 1,4 glucosidase or acid maltase deficiency has been reported in a few children and adults (GSD Type IIb or IIc) erroneously thought to have muscular dystrophies [5].

High impact information on Glycogen Storage Disease Type II

• Clinical and metabolic correction of pompe disease by enzyme therapy in acid maltase-deficient quail [6].
• Glycogen storage disease type II (GSDII; Pompe disease), caused by inherited deficiency of acid alpha-glucosidase, is a lysosomal disorder affecting heart and skeletal muscles [7].
• Hence, the generation of rhGAA containing high affinity ligands for the CI-MPR represents a strategy by which the potency of rhGAA and therefore the clinical efficacy of enzyme replacement therapy for Pompe disease may be improved [8].
• Acarbose served as inhibitor of an interfering acid alpha-glucosidase present in neutrophils, which allowed the lysosomal enzyme implicated in Pompe disease to be selectively analyzed [9].
• In Pompe disease, the concentration of a tetrasaccharide, consisting of four glucose residues, is reputedly increased in urine and plasma, but faster and more sensitive methods are required for the analysis of this, and other oligosaccharides, from biologic fluids [10].

Chemical compound and disease context of Glycogen Storage Disease Type II

• Infantile Pompe's disease, lipid storage, and partial carnitine deficiency [11].
• L-alanine supplementation in late infantile glycogen storage disease type II [12].
• Isoelectric precipitation at pH 5.0 and the use of the inhibitors, turanose, maltose and citrate, enabled the diagnosis of Pompe's disease to be made in dextran-isolated leucocytes using 4-methylumbelliferyl-alpha-D-glucopyranoside as substrate [13].
• Type II glycogenosis and thyroxine binding globulin deficiency in the same family [14].
• A 9-month-old boy with a suggested candidemia was treated with liposomal amphotericin B (AmBisome, Vestar) after a liver transplant due to an inherited glycogenosis (Pompe's disease) [15].

Biological context of Glycogen Storage Disease Type II

• Despite structural differences in Man-6-P receptors between birds and mammals, these studies illustrate that Man-6-P receptor mediated endocytosis is present in quail muscle cells, and demonstrate the potential of acid maltase-deficient quail to test receptor mediated enzyme replacement therapy for Pompe disease [16].

Anatomical context of Glycogen Storage Disease Type II

• Glycogen storage disease type II (GSD II), Pompe's disease, is caused by the deficiency of acid alpha-D-glucosidase (GAA) in lysosome and is the most common form of GSD in Taiwan. Most cases are the infantile form [17].
• Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers [18].
• A modification of a femoral nerve block, the inguinal paravascular block, as described by Winnie, was used in conjunction with intravenous ketamine to provide anaesthesia for a diagnostic muscle biopsy in a 5.5-month-old infant with Pompe's disease [19].

Gene context of Glycogen Storage Disease Type II

• Type II glycogenosis showed an increased reactivity for desmin and vimentin [20].
• An autosomal recessive deficiency of acid alpha-glucosidase (GAA), type II glycogenosis, is genetically and clinically heterogeneous [21].
• These results demonstrate that remodelling the carbohydrate of rhGAA to improve its affinity for the CI-MPR represents a feasible approach to enhance the efficacy of enzyme replacement therapy for Pompe disease [22].
• Adding acid alpha-glucosidase to cultures of Pompe's disease muscle has resulted in enzyme uptake and reduction in concentration of glycogen [23].
• If compared with infantile AMD (Pompe's disease) our cases have a much higher residual acid alpha-glucosidase activity and show the presence of an antigenically detectable protein [24].

Analytical, diagnostic and therapeutic context of Glycogen Storage Disease Type II

• A single intraperitoneal injection of acarbose (400 mg/kg) into rats caused lysosomal accumulation of glycogen in the liver, mimicking the cytological characteristics of human glycogen storage disease type II (Pompe's disease) [25].
• Demonstration of acid maltase protein in Pompe disease by use of immunohistochemical and enzyme immunoassay methods [26].
• Thin-layer chromatography of oligosaccharides in urine as a rapid indication for the diagnosis of lysosomal acid maltase deficiency (Pompe's disease) [27].

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