Tomoaki Tanaka

Fructose-1,6-bisphosphatase deficiency: the clinical characteristics, molecular consequences of FBP1 variants, and emerging non-canonical functions of FBP1.

Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare autosomal recessive disorder of gluconeogenesis caused by the biallelic pathogenic variants of FBP1. Recurrent episodes of hypoglycemia and lactic acidosis usually occur during childhood. Because the ketone levels during hypoglycemic attacks may vary in patients...