Characterization of energy metabolism phenotypes in GALT-null rats Open Access

Roundy, Robert (Spring 2019)

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Classic galactosemia (GC) is an autosomal recessive disorder that results from deficiency of Galactose-1-phosphate uridylyltransferease (GALT), the middle enzyme in the Leloir pathway of galactose metabolism. CG has been associated with a range of acute and long-term complications, including delays in both cognitive and physical development. The goal of the following studies was to test whether GALT-null rats exhibit phenotypes relating to energy metabolism. To answer this question, we tested GALT-null Sprague Dawley rats in an attempt to characterize the model’s growth rate, food consumption habits, and liver glycogen content. Our results suggest that GALT-null rats experience delayed growth, that smaller body weight is not accounted for by decreased food intake, and that livers from male, but not female, GALT-null rats contain less glycogen. Combined, these data suggest that GALT deficiency has a subtle, but potentially significant, impact on energy metabolism in rats. Additionally, the results described here suggest certain parallels between the model and patients and suggest that the rat may be a suitable model to study the underlying mechanisms of GALT deficiency and test possible interventions for CG.

Table of Contents

Chapter 1: Overview of classic galactosemia and galactose metabolism                               Pg. 1

Chapter 2: Investigation of growth phenotype exhibited in GALT-null Rats                         Pg. 7

Chapter 3: Investigation of the effect of lactose in the diet of GALT-null Rats                     Pg. 17

Chapter 4: Investigation into the liver’s glycogen content in GALT-null rats                        Pg. 27

Chapter 5: General Discussion                                                                                               Pg. 38

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