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HomePediatrics: Genetics and Metabolic DiseaseFructose 1,6-Diphosphatase Deficiency

Fructose 1,6-Diphosphatase Deficiency


Glucose homeostasis is essential for life. Because most of an organism’s life is spent in a fasting state (ie, between meals), no fewer than 3 major mechanisms have evolved to maintain glucose homeostasis during a fast.
These mechanisms are gluconeogenesis, glycogenolysis, and lipolysis.

In the immediate postprandial period, glycogenolysis represents the major homeostatic process to maintain euglycemia. In neonates, gluconeogenesis is particularly important for maintaining euglycemia. Fructose 1,6-diphosphatase (FDPase) (also termed fructose 1,6-bisphosphatase) is a focal enzyme in gluconeogenesis via its conversion of fructose 1,6-diphosphate (FDP) to fructose 6-phosphate (F-6-P), which permits endogenous glucose production from gluconeogenic amino acids (eg, alanine and glycine), glycerol, or lactate.

Deficiency of hepatic FDPase was first confirmed in 1970 by Baker and Winegrad.
They reported the dramatic clinical picture of acidosis in response to D-fructose challenge.

Of broader clinical interest, excess hepatic FDPase action contributes to hyperglycemia in patients with type 2 diabetes.
The development of specific FDPase inhibitors has opened a novel avenue for treating patients with type 2 diabetes.

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