Fructose-1,6-diphosphatase deficiency (Q86969): Difference between revisions

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Latest revision as of 12:32, 15 August 2026

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.

Language	Label	Description	Also known as
default for all languages	ID_2128680017
English	Fructose-1,6-diphosphatase deficiency	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.