DiMauro, S, Bresolin, N, Hays, AP (1984) Disorders of glycogen metabolism in muscle. CRC Crit Rev Clin Neurobiol 1: pp. 83-116Servidei, S., and S. DiMauro. 1989. Disorders of glycogen metabolism of muscle. Neurologic Clinics. 7:159-178....
regulation by local cellular and body-wide hormonal mechanisms that ensure its synthesis when possible and its utilization when needed. Though not common,geneticdefects inglycogen metabolismcan have serious consequences for health. Current research addresses therapies to treat disorders ofglycogen metabolism...
Glycogen metabolism is primarily regulated by hormones (e.g., insulin, glucagon, epinephrine). In skeletal muscle, glycogen metabolism is also regulated allosterically (e.g., ATP, AMP, Ca2+). Regulation is based on the phosphorylation and dephosphorylation of the key regulatory enzymes, which incl...
Enzymes of Glycogen Metabolism in Normal and Mu- tant Cells The deficiency of acid maltase in patients with gly- cogenosis type II was reflected in the fibroblasts; the enzyme was undetectable at pH 4.0. At pH 7.0, maltase activity in mutant and control cells was similar, but was lower ...
Probing regional glycogen metabolism in humans non-invasively has been challenging due to a lack of sensitive approaches. Here we studied human muscle glycogen dynamics post-exercise with a spatial resolution of millimeters and temporal resolution of minutes, using relayed nuclear Overhauser effect (glyco...
and the clinical features associated with glycogen storage disorders can assist in predicting the toxicity associated with depletion of the different glycogen metabolism enzymes. In particular, GP defects in Hers’ disease patients are associated with hepatomegaly, growth retardation, ketotic hypoglycaemia...
G. J. Inborn errors of metabolism with hypoglycemia: glycogen storage diseases and inherited disorders of gluconeogenesis. Pediatr. Clin. North. Am. 65, 247–265 (2018). Article PubMed Google Scholar Amalfitano, A. et al. Recombinant human acid alpha-glucosidase enzyme therapy for infantile ...
Mineral Cu Wilson's disease/Menkes disease - Fe Haemochromatosis - Zn Acrodermatitis enteropathica - PO43�' Hypophosphatemia/Hypophosphatasia - Mg2+ Hypermagnesemia/Hypomagnesemia - Ca2+ Hypercalcaemia/Hypocalcaemia/Disorders of calcium metabolism Fluid, electrolyteand acid-base balance Electrolyte di...
Metabolism disrupting chemicals and metabolic disorders. Reprod Toxicol 2017;68:3-33. 103 Mason HH, Andersen DH. Glycogen disease of the liver (von Gierke's disease) with hepatomata; case report with metabolic studies. Pediatrics 1955;16:785-800. 104 Bianchi L. Glycogen storage disease I and...
Mutations in the genes coding the enzymes involved in either of the two pathways of degradation may cause congenital disorders of glycogen metabolism. 3.1. Glycogen degradation in the cytosol Glycogen breakdown in the cytosol is catalyzed by the coordinated action of two enzymes, glycogen phosphorylase...