Targeted deletion of liver glucose-6 phosphatase mimics glycogen storage disease type 1a including development of multiple adenomas
E Mutel, A Abdul-Wahed, N Ramamonjisoa… - Journal of …, 2011 - Elsevier
BACKGROUND AND AIMS: Glycogen storage disease type 1a (GSD1a) is an inherited
disease caused by a deficiency in the catalytic subunit of the glucose-6 phosphatase
enzyme (G6Pase). GSD1a is characterized by hypoglycaemia, hyperlipidemia, and lactic
acidosis with associated hepatic (including hepatocellular adenomas), renal, and intestinal
disorders. A total G6pc (catalytic subunit of G6Pase) knock-out mouse model has been
generated that mimics the human pathology. However, these mice rarely live longer than …
disease caused by a deficiency in the catalytic subunit of the glucose-6 phosphatase
enzyme (G6Pase). GSD1a is characterized by hypoglycaemia, hyperlipidemia, and lactic
acidosis with associated hepatic (including hepatocellular adenomas), renal, and intestinal
disorders. A total G6pc (catalytic subunit of G6Pase) knock-out mouse model has been
generated that mimics the human pathology. However, these mice rarely live longer than …