Disorders of gluconeogenesis
- 1 July 1996
- journal article
- review article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 19 (4) , 470-477
- https://doi.org/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.Keywords
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