FANCONI- BICKEL SYNDROME

SLC2A2 GENE ANALYSIS IN FANCONI-BICKEL SYNDROME

Fanconi-Bickel syndrome (Glycogen storage disease type XI) is an autosomal recessive disorder of carbohydrate metabolism caused by disease-causing variants in SLC2A2. Fanconi-Bickel syndrome presents in early infancy and is characterised by the association of hepatomegaly, hypoglycaemia and severe hypophosphataemic rickets and marked growth retardation due to proximal renal tubular dysfunction.

The laboratory participates in the European Molecular Genetics Quality Network (EMQN) sequencing scheme.