Improvement of the nutritional management of glycogen storage disease type I.
Doctoral thesis, UCL (University College London).
The nutritional management of glycogen storage disease has often been called “the intensive regimen”. The intensive regimen may not be without consequence. This thesis aims to characterise the intensive regimen and implement changes. Chapter 1 discusses concepts of glucose homeostasis in humans and introduces the glycogen storage diseases as a group of disorders. The metabolic physiology of those glycogen storage disorders associated with hypoglycaemia are reviewed and traditional methods used to ameliorate these metabolic disturbances are discussed. Methods used in the study include cornstarch loads, breath enrichment of 13CO2, hydrogen breath tests and dietary assessment as well as participant characteristics are discussed in chapter 2. Chapter 3 examines nutritional management as a cross-sectional dietary survey of children and adults with GSD, comparing the patient group to expert-panel recommendations as well as age and sex matched controls. Chapter 4 looks at the short-term effect a new carbohydrate therapy has on biochemical indices of metabolic control focusing on glucose, lactate and insulin profiles. These studies are double-blind cross-over studies, comparing the novel starch to uncooked cornstarch. Similarly Chapter 5 studies further short-term metabolic effects of the novel starch compared to cornstarch by examining hydrogen breath test data and enrichment of 13C02 in breath in an attempt to gauge the mechanism of action of the novel carbohydrate therapy. Chapter 6 examines the implementation of the new dietary starch into subjects' long-term dietary regimen in the form of a randomised cross-over trial. The primary endpoints are quantity of treatment starch use but safety, efficacy and patient acceptance of therapy are also considered. Chapter 7 brings together these various studies drawing conclusions and suggestions for further study. This chapter highlights the difficulties in performing investigations in rare disorders, when subjects are vulnerable to metabolic decompensation and recommends further study in healthy volunteers.
|Title:||Improvement of the nutritional management of glycogen storage disease type I|
|Open access status:||An open access version is available from UCL Discovery|
|Additional information:||Abstract provided separately to thesis|
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