Fructose-1-6-bisphosphatase deficiency
Overview
Fructose bisphosphatase (EC 3.1.3.11) is an enzyme in the liver, that converts fructose-1,6-bisphosphate to fructose 6-phosphate in gluconeogenesis (the making of glucose from smaller substrates). Fructose bisphosphatase does the opposite job as phosphofructokinase, and both these enzymes only work in one direction
Symptoms
Hyperventilation Low blood sugar Fits Seizures Acidosis
Causes
The gene encoding FDPase was reported in 1995,2 and several mutations resulting in loss of function have subsequently been reported in American and Japanese patients