Disturbed lipid metabolism in glycogen storage disease type 1

Abstract

future studies, using novel stable isotope methodologies, are warranted to further clarify the disturbances in lipid and lipoprotein metabolism in glycogen storage disease type 1 and the role of glucose-6-phosphate herein.

Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I)

“…This study shows for the first time a difference in hyperlipidaemia between GSD Ia and GSD Ib patients: the number of GSD Ia patients with hyperlipidaemia is greater and it is more severe. Hyperlipidaemia in GSD I is thought to be a result of both increased synthesis of lipids from excess acetyl-CoA, and decreased serum lipid clearance [1,6,7,27,33,55,56,71]. The cause of difference in hyperlipidaemia between Ia and Ib patients is still unknown.…”

Improvements of hypertriglyceridemia and hyperlacticemia in Japanese children with glycogen storage disease type Ia by medium-chain triglyceride milk

“…Furthermore, it has been postulated that hypoglycemia accounts for most of the hypertriglyceridemia and hyperlacticemia [2,4,8,13]. From this context, nutritional management of this disorder has been based on high-carbohydrate diets, such as starches, which counteract the rapidly falling blood glucose level [2,4,13].…”

“…From this context, nutritional management of this disorder has been based on high-carbohydrate diets, such as starches, which counteract the rapidly falling blood glucose level [2,4,13]. However, hypertriglyceridemia often remains unresolved and may lead to pancreatitis [2,4,8,13].…”

“…Accordingly, besides profound hypoglycemia together with hyperlacticemia, patients with GSD Ia often present with prominent hypertriglyceridemia [2,4,8,13]. A considerable suppression of liver fatty acid oxidation in these patients has also been documented [3,4,7,12,13].…”

“…A considerable suppression of liver fatty acid oxidation in these patients has also been documented [3,4,7,12,13]. Dietary treatment of GSD Ia with carbohydrate-rich, lipid-poor meals such as cornstarch has been shown to prevent hypoglycemia and to lower plasma lactate levels, but hypertriglyceridemia is often resistant to dietary treatment [2,4,8,13].…”