In vivo hepatic localized proton magnetic resonance spectroscopy at 7T in a glycogen storage disease mouse model

Introduction: Glycogen storage disease type I (GSD 1) is an autosomal recessive metabolic disorder resulting in severe impairment of glucose production and large accumulation of liver fatty acids (steatosis). The phenotype of GSD I results from a defect in the glucose-6 phosphatase complex (G6pc). Despite of a strict diet, patients with GSD 1 develop, with age, multiple hepatocellular adenoma (HCA), ultimately transforming into hepatocellular carcinoma (HCC) [1]. The occurrence of this hepatic pathology appears to be related to the degree of steatosis, as in patients with GSD 1 these adenomas sometimes regress when metabolic control is tightened. Very recently, a viable mouse model of GSD I with a liver specific invalidation of G6pc has been generated [2]. GSD 1 mice exhibit hepatic pathological features (hepatomegaly, steatosis) very similar to those observed in GSD1a patients. In vivo 1H magnetic resonance spectroscopy (MRS) was used to examine the content and composition of fatty liver in the mouse model of GSD1a, in a noninvasive manner. Our objective was to evaluate the hepatic steatosis under two different diets, a standardand a high fat diet, to further correlate the development of adenomas and the liver fatty acid composition.