Severe hypertriglyceridemia and recurrent pancreatitis in a girl with type Ia glycogen storage disease and type III hyperlipoproteinemia.

摘要

We are writing to describe what we believe to be the first patient reported with Glycogen Storage Disease Ia (GSD Ia) and Hyper-lipoproteinemia Type III (HLP III), whose presentation, clinical course, and response to therapy illustrate a unique interaction between the two conditions. GSD Ia, or Von Gierke Disease, is an inborn error of glycogen metabolism which characteristically produces hypoglycemia, hyperuricemia, lactic acidosis, and dyslipide-mia [Smit et al, 2006]. Deficient activity of glucose-6-phosphatase (G-6-Pase) reduces glycogenolysis and gluconeogenesis and leads to hepatic accumulation of glucose-6-phosphate (G-6-P).