Glycogen-storage disease

A Chemical Investigation of Two Cases of Glycogen Storage Disease, S. A. Barker, M. Stacey, and M. A. L. Al-Farisi, Clin. Chim. Acta, 8 (1963) 311-314. 

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

Glycogen storage disease is a generic term to describe a group of inherited disorders characterized by deposition of an abnormal type or quantity of glycogen in the tissues. The principal glycogenoses are summarized in Table 18—2. Deficiencies of adenylyl kinase and cAMP-dependent protein kinase have also been re-... 

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

There are important methodologic considerations which apply to the use of cultured amniotic fluid cells for the detection of biochemical disorders. The first is that the enzymes which can be sampled are those which are usually present in fibroblasts or fibroblast-like cells. Therefore, conditions such as phenylketonuria and glycogen storage disease type I, which are associated with deficiencies of enzymes present only in liver and kidney, are not amenable to this approach. The same also pertains to enzyme deficiencies affecting other specific tissues. 

Martiniuk, F., Chen, A., Donnabella, V. et al. (2000) Correction of glycogen storage disease type II by enzyme replacement with a recombinant human acid maltase produced by over-expression in a CHO-DHFR(neg) cell line. Biochemical and Biophysical Research Communications, 276 (3), 917-923. 

Important genetic deficiencies, listed in Table 1-14-3, are classed as glycogen storage diseases because all are characterized by accumulation of glycogen in one or more tissues. 

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). 

The most common glycogen storage disease. Type I or von Gierke disease, is a deficiency in glucose 6-phosphatase in which glycogen structures are normal however, the liver is unable to dephosphory-late glucose 6-phosphate, and it remains trapped In the cell. 

Also the slowly digesting modified starehes eould be used for the treatment of certain medical conditions (e.g. glycogen storage disease and diabetes mellitus) (Wolf et al., 1999). 

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. 

Of interest is the observation that markedly elevated plasma biotinidase activity may indicate glycogen storage disease type la [31]. 

Galvin-Parton P, Hommes FA (1996) Abnormal oligosaccharide pattern in glycogen storage disease type III. J Inherit Metab Dis 19 383-384... 

Sewell AC (1986) Urinary oligosaccharide screening detects type VI glycogen storage disease. Clin Chem 32 392... 

Table 4.6.10 Activities of a-glucosidase in controls and in patients with glycogen storage disease type II (GSD II)...

Brown BI, Brown DH (1989) Branching enzyme activity of cultured amniocytes and chorionic villi prenatal testing for type IV glycogen storage disease. Am J Hum Genet 44 378-381... 

Burchell A, Gibb L (1991) Diagnosis of type 1 and 1 C glycogen storage disease. J Inherit Metab Dis 14 305-307... 

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... 

Chen YT, He JK, Ding JH, Brown BI (1987) Glycogen debranching enzyme purification, antibody characterization, and immunoblot analysis of type III glycogen storage disease. Am J Hum Genet 41 1002-1015... 

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