Definition: An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood.
do not use /congen & do not coord with INFANT, NEWBORN, DISEASES
Other names von Gierke Disease; Hepatorenal Glycogen Storage Disease; Glycogenosis 1; Glucosephosphatase Deficiency; Glucose-6-Phosphatase Deficiency; von Gierkes Disease; Glucosephosphatase Deficiencies; Glucose-6-Phosphatase Deficiencies; Glucose 6 Phosphatase Deficiency; Gierkes Disease; Disease, von Gierke's; Disease, von Gierke; Disease, Gierke's; Disease, Gierke; Deficiency, Glucose-6-Phosphatase; Deficiencies, Glucosephosphatase; Deficiencies, Glucose-6-Phosphatase; von Gierke's Disease; Glycogen storage disease 1 (GSD I); Gierke's Disease
