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Glycogen storage diseases 

Glycogen storage diseases

Chapter:
Glycogen storage diseases
Author(s):

Philip Lee

and Kaustuv Bhattacharya

DOI:
10.1093/med/9780199204854.003.120301_update_001

August 28, 2014: This chapter has been re-evaluated and remains up-to-date. No changes have been necessary.

Update:

Clinical presentation—GSD type Ib associated with neutropenia and neutrophil dysfunction.

Diagnosis—use of massively parallel sequencing of relevant genes in appropriate clinical circumstances.

Treatment—(1) Dietary guidelines incorporating use of lower glycaemic index alternatives (e.g. medium chain triglycerides or protein) to simple sugars or other macronutrients in selected situations. (2) Expanded discussion of exercise training and use of pyridoxine in skeletal muscle variants (GSD IIIa, V, VII and IX).

Updated on 28 Nov 2013. The previous version of this content can be found here.
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date: 21 July 2017

Glycogen metabolism is regulated by a number of different enzymes, defects in any of which result in several types of glycogen storage disease.

Types I, III, VI, and IX have predominantly hepatic manifestations: they typically present in infancy with failure to thrive and hepatomegaly, and they are associated with fasting hypoglycaemia. Diagnosis can be made in many cases by detection of gene mutation or functional tests of red blood cells or white blood cells. Most patients require an intensive dietary regimen providing a constant source of exogenous glucose, particularly in childhood. In illness, glucose requirements increase and it is necessary to continue to provide glucose either enterally or intravenously to prevent hypoglycaemia and secondary metabolic disturbances....

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