[PDF] Fructose-1,6-bisphosphatase deficiency : acute decompensation (also called fructose 1,6 diphosphatase deficiency)

British Inherited Metabolic Disease Group
British Inherited Metabolic Disease Group (BIMDG)
Publication date:
01 January 2008


Fructose-1,6-bisphosphatase deficiency is a disorder of gluconeogenesis. Most of the time patients are healthy and do not require a special diet. Infections, fasting or vomiting can lead to serious illness, with drowsiness, tachypnoea, marked acidosis and hypoglycaemia. However, hypoglycaemia occurs at a relatively late stage. Treatment aims to prevent metabolic  decompensation by giving glucose  by mouth or intravenously. In young children, bicarbonate is often needed to correct acidosis.