Biochemical and clinical observations in four patients with fructose-1,6-diphosphatase deficiency
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Three boys and one girl suffering from inherited fructose-1,6-diphosphatase (FDPase) deficiency are reported. All four patients had less than 25% residual hepatic FDPase activity. While in two out of three patients the enzyme deficiency was also expressed in leucocytes, one patient had a normal enzyme activity. Remarkably, three patients had pronounced neonatal hyperbilirubinaemia requiring exchange transfusion.
Key wordsFructose-1,6-diphosphatase deficiency Gluconeogenesis Hypoglycaemia Neonatal hyperbilirubinaemia
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