Abstract
Glycogen storage disease (GSD) type I, also known as Von Gierke disease (VGD), is an autosomal recessive disorder characterized by deficient glucose-6-phosphatase activity, an enzyme needed in glycogenolysis and gluconeogenesis to convert glucose-6-phosphate to free glucose. This leads to hypoglycemia with associated lactic acidosis, hypertriglyceridemia and hyperuricemia. Paradoxically, despite hypoglycemia, patients with VGD usually don’t develop significant ketosis due to inhibition of fatty acid beta-oxidation by high levels of malonyl-CoA.
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