2. Academic Validation
  3. Disorders of gluconeogenesis

Disorders of gluconeogenesis

  • J Inherit Metab Dis. 1996;19(4):470-7. doi: 10.1007/BF01799108.
G van den Berghe 1
Affiliations

Affiliation

  • 1 Laboratory of Physiological Chemistry, International Institute of Cellular and Molecular Pathology, Brussels, Belgium.
PMID: 8884571 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.

Figures