Van den Berghe, Georges
[UCL]
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.
| Bibliographic reference |
Van den Berghe, Georges. Disorders of gluconeogenesis.. In: Journal of inherited metabolic disease, Vol. 19, no. 4, p. 470-7 (1996) |
| Permanent URL |
http://hdl.handle.net/2078.1/29330 |
