Disease Information for Von Gierke's disease/glycogenosis I: Definition

  • Von Gierke Disease; Glycogen Storage Disease I; Glycogenosis Type I; Hepatorenal Glycogenosis;

    Glucose-6-Phospate Translocase Deficiency;

    Glucose-6-Phosphatase Deficiency; Glucose-6-Phosphate Tranport Defect; Glycogenosis Type IA; Glycogenosis Type IB

    Von Gierke Disease is a glycogen storage disease; This hereditary metabolic disorder is caused by an inborn lack of the enzyme glucose-6-phosphatase; This enzyme is needed to convert the main carbohydrate storage material (glycogen) into sugar (glucose), which the body uses for its energy needs; A deficiency causes deposits of excess glycogen in the liver and kidney cells--------------[NORD 2005]-------------- Gierke"s syndrome ;Also known as: Gierke"s disease; van Creveld-von Gierke disease; von Gierke"s disease: Glucose-6-phosphatase deficiency, Glycogen storage disease I, glycogen storage syndrome, glycogenosis type I, glucose-6-phosphatase-deficciency, and hepatonephromegalia glycogenica, hepatorenal glycogenosis, liver glycogen disease; Von Gierke’s is relatively common in a group of hereditary glycogen-storage diseases; This progressive disease is an inborn error of glycogen metabolism due to glucose-6-phosphatase (G6P) deficiency, involving chiefly the liver and kidneys; The liver may become huge and contain as much as 15 percent of glycogen;

    The symptoms are usually present at birth or appear shortly thereafter; A very long list of symptoms and clinical signs includes failure to thrive, convulsions (hypoglycaemic), retarded growth without disproportion; prominent abdomen due to massive hepatomegaly; adiposity with accumulation of fat in the cheeks, buttocks, and subcutaneous tissues; bleeding tendency; epistaxis; occasionally, steatorrhea; lumbar lordosis; adiposity; skin yellowish xanthomas over joints and buttocks; The muscles are flabby and poorly developed. Gout-related signs;

    Parenchymal rather than reticuloendothelial cells are involved; Deposition in the heart is known as Pompe"s syndrome, in the skeletal muscles as McArdle"s syndrome;

    The disorder occurs in only about 1 in 200,000 persons, affecting both sexes; Afflicted individuals who survive into adulthood suffer primarily from hyperuricaemia and hepatoma; The syndrome is transmitted as an autosomal recessive trait----------[whonamedit_com 2005]----------