Glycogen storage disease type Ia (GSD Ia) is a rare autosomal recessive disorder caused by a deficiency in glucose 6-phosphatase-α (G6PC). Patients primarily suffer from failure to thrive, hepatomegaly and severe fasting intolerance, biochemically characterized by hypoketotic and hyperlipidemia. Sin...
Background: Glycogen Storage Disease (GSD) Type Ia and Ib are rare metabolic diseases caused by gene variants in G6PC and SLC37A4 respectively. Patients often suffer from multiple metabolic abnormalities and severe long-term complications. Methods: In this study, we employed comprehensive untargete...
Glycogen storage disease type I (GSD I) is an autosomal recessive inborn error of carbohydrate metabolism. Patients with GSD type Ia and Ib exhibit overlapping and distinct symptoms and complications. Notably, GSD Ia patients show more severe hypertriglyceridemia and higher risk of hepatic tumors th...
abstract1: Glycogen storage disease type Ia (GSD Ia) is an inborn error of metabolism caused by defective glucose-6-phosphatase (G6PC) activity. GSD Ia patients exhibit severe hepatomegaly due to glycogen and triglyceride (TG) accumulation in the liver. We have previously shown that the activity of ...
Hepatic ChREBP activation limits NAFLD development in a mouse model for Glycogen Storage Disease type Ia/ Normalization of ChREBP activity in hepatic GSD Ia accelerates liver disease progression and sensitizes towards hepatocellular tumour formation.
