Disorders of gluconeogenesis

J Inherit Metab Dis. 1996;19(4):470-7. doi: 10.1007/BF01799108.

Abstract

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.

Publication types

  • Review

MeSH terms

  • Carbohydrate Metabolism, Inborn Errors* / diagnosis
  • Carbohydrate Metabolism, Inborn Errors* / genetics
  • Carbohydrate Metabolism, Inborn Errors* / physiopathology
  • Carbohydrate Metabolism, Inborn Errors* / therapy
  • Fructose-1,6-Diphosphatase Deficiency / diagnosis
  • Fructose-1,6-Diphosphatase Deficiency / genetics
  • Fructose-1,6-Diphosphatase Deficiency / physiopathology
  • Fructose-1,6-Diphosphatase Deficiency / therapy
  • Gluconeogenesis*
  • Humans
  • Phosphoenolpyruvate Carboxykinase (GTP) / deficiency
  • Prognosis

Substances

  • Phosphoenolpyruvate Carboxykinase (GTP)