Metabolic diseases: glycogen storage

Metabolic Myopathies Glycogen Storage Disease Disorders of Lipid Metabolism Respiratory Chain Disorders Mitochondrial DNA Abnormalities Myotonias, Periodic Paralyses, and Malignant Hyperpyrexia Myotonias... 

Metabolic disorders glycogen storage disease, Gaucher disease, thyroid disorders... 

These groups typically focus primarily on one specific disease or type of disease process (e.g. inborn errors of metabolism, muscle disease, glycogen storage diseases, autoimmune diseases). Occasionally, they may serve as umbrella organizations for larger numbers of rare diseases, in order to achieve... 

Melis D, et al. Impaired bone metabolism in glycogen storage disease type 1 is associated with poor metabolic control in type la and with granulocyte colony-stimulating factor therapy in type lb. Horm Paediatr. 2014 81(l) 55-62. 

Inborn Errors of Carbohydrate Metabolism 163 Glycogen Storage Disease Glycogen Metabolism Von Gierke s Disease... 

Inherited deficiencies in specific enzymes of glycogen metabolism in both liver and muscle are the causes of glycogen storage diseases. 

Patients snffering from metabolic disorders such as phenylketonuria (PKU), branched-chain ketoaciduria (maple syrup urine disease, MSUD), nrea and ammonia disorders or glycogen storage disease reqnire formulations manufactured specifically for each disease (Elsas Acosta, 2006). (Appendix 15.1). 

Chen, Y.-T., Chapter 350 Glycogen storage diseases and other inherited disorders of carbohydrate metabolism. Harrison s Text online. 2002, accessed 4/2/02. E. Braunwald, A.S. Eauci, K. J. Isselbacher, D.L. Kasper, S.L. Hauser, D.L. Longo, and JL. Jameson, eds. 

Chen YT (2001) Glycogen storage diseases. In Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The Metabolic and Molecular Bases of Inherited Disease, 8th edn. McGraw-Hill, New York, pp 1521-1551... 

Hers HG (1964) Glycogen storage disease. In Levine R, Luft R (eds) Advances in Metabolic Disorders, Vol. 1. Academic Press, New York, London, pp 1-44... 

The 357-residue mammalian glucose-6-phospha-tase plays an important role in metabolism (Chapter 17). Defects in the enzyme cause a glycogen storage disease (Box 20-D) and severe disruption of metabolism.731 However, the molecular basis of its action is not well-known. Furthermore, the active site of the enzyme is located in the lumen of the endoplasmic reticulum732 and glucose-6-phosphate must pass in through the plasma membrane. An additional glucose-6-phosphate transporter subunit may be required to allow the substrate to leave the cytoplasm.73... 

Because the liver is a major processor of dietary and endogenous carbohydrates, liver disease affects carbohydrate metabolism in a variety of ways (see Chapter 25). However, none of the conventional modes of evaluating carbohydrate metabolism have value in the diagnosis of liver disease. Because the liver is the major site of both glycogen storage and gluconeogenesis, hypoglycemia is a common complication in certain liver diseases, particularly Reye s syndrome, fulminant hepatic failure, advanced cirrhosis, and hepatocellular carcinoma. 

However, not all the results in glycogen storage disease can be dismissed as resulting from imperfect laboratory technique. Enzyme deficiencies could occur if the mutation was in an operator gene controlling more than one adjacent gene (Jl), and it is not impossible that such a situation exists in the hereditary metabolic errors of urea formation. 

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