Disorders of gluconeogenesis.
Gluconeogenesis, or the formation of glucose from mainly lactate/ pyruvate, glycerol and alanine, plays an essential role in the maintenance of normoglycaemia during fasting. Inborn deficiencies are known of each of the four enzymes of the glycolytic-gluconeogenic pathway that ensure a unidirectional flux from pyruvate to glucose: pyruvate carboxylase, phosphoenolpyruvate carboxykinase, fructose-1,6-bisphosphatase, and glucose-6-phosphatase. In this paper, the clinical picture, pathophysiology, diagnostic tests, genetics, treatment and prognosis of the deficiencies of fructose-1,6-bisphosphatase and phosphoenolpyruvate carboxykinase are reviewed.
van den Berghe
G
G
Laboratory of Physiological Chemistry, International Institute of Cellular and Molecular Pathology, Brussels, Belgium.
D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D015319:Fructose-1,6-Diphosphatase Deficiency / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D005943:Gluconeogenesis; D006801:Humans; D010729:Phosphoenolpyruvate Carboxykinase (GTP) / Q000172:deficiency; D011379:Prognosis
D010729:Phosphoenolpyruvate Carboxykinase (GTP)