Catalog

Fructose-1,6-diphosphatase deficiency

No MMS code

Link to WHO Definition

Fructose-1,6-diphosphatase deficiency – http://id.who.int/icd/entity/2128680017

Fructose 1,6 diphosphatase deficiency is an autosomal recessive disorder of neoglucogenesis. It is characterised by recurrent, and sometimes life-threatening, episodes of fasting hypoglycaemia with lactic acidosis. Patients are asymptomatic between episodes or after ingestion of fructose. Treatment is based on frequent feeding for infants and young children with a diet enriched with glucose or maltodextrin and limited in fructose.