Glycogen metabolism disorders

Glycogen metabolism disorders Amylo-l,6-glucosidase defect Liver phosphorylase defect Glycogen synthetase defect... 

One class of glycogen or lipid metabolic disorders in muscle is manifest as acute, recurrent, reversible dysfunction 696... 

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). 

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 clinical picture is characterized by hepatomegaly due to deposits of glycogen and triglycerides and by marked kidney enlargement (no splenomegaly as occurs in lipoidosis or cirrhosis). Severe metabolic disorders such as hypoglycaemia and hyperlipidaemia (triglycerides, free fatty acids, cholesterol) as well as increased... 

Metabolic disorders of muscle include those of glycogen storage, substrate transport and utilization, and electron transport chain and ATP metabolism. Some produce dynamic syndromes with symptoms occurring primarily during exertion, some cause degenerative syndromes, and some produce both. A few are discussed below. 

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

Sewell, A.C (1980) Urinary oligosaccharide excretion in disorders of glycolipid, glycoprotein and glycogen metabolism. A review of screening for differential diagnosis. Eur. J. Pediatr. 134 183-194. 

This chapter deals with disorders of galactose, fructose and glycogen metabolism. The clinical presentations of these disorders can be mild or severe and life-threatening. The clinical features include failure to thrive, hepatomegaly, hypoglycemia, jaundice, metabolic acidosis, and myopathy including muscle pain and weakness. 

The reference values for common metabolites in the diagnosis of carbohydrate disorders are shown below. The disorders of carbohydrate and glycogen metabolism are either confirmed by enzyme assay or DNA analysis. Reference values for enzymes have been variable, depending on the assaying conditions however, the diagnostic value usually falls below 5-10% of normal. 

As will be clear from what has been said above, the recognized biochemical changes in muscle diseases are, in general, rather non-specific, although there are often quantitative differences in the degree of abnormality between the various disorders. (In a small number of rare inherited defects of glycogen metabolism, described in the next section, the defect is sufficiently marked and unique to be identifiable.) A number... 

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