Von Gierke's disease adopts an orphan (and its partner).
The enzyme glucose-6-phosphatase is critical for maintaining fasting blood sugar levels by increasing hepatic glucose production. Its absence in patients with von Gierke's disease leads to severe hypoglycemia and abnormal accumulation of glycogen (glycogenosis) in the liver. New players that control the expression of glucose-6-phosphatase have been identified that may provide insight into this metabolic disorder, as well as type 2 diabetes.
Cheng
Alan
A
Departments of Internal Medicine and Physiology, Life Sciences Institute, University of Michigan Medical Center, Ann Arbor, MI 48109, USA.
Saltiel
Alan R
AR
D003924:Diabetes Mellitus, Type 2 / Q000209:etiology; D015971:Gene Expression Regulation, Enzymologic; D005952:Glucose-6-Phosphatase / Q000378:metabolism; D005953:Glycogen Storage Disease Type I / Q000209:etiology*; D006801:Humans
D005952:Glucose-6-Phosphatase