Fructose-1,6-diphosphatase deficiency
Incidence
Rare disorder AR inheritance.
Clinical Characteristics
Often manifest in the neonatal period. Ingestion of fructose lead to hypoglycemia in 30-90 minutes later, with ketosis. Fructosuria. Ketolactic acidosis. Neonates have hyperventilation, seizures, coma and hypoglycemia. Hepatomegaly may be important.
Precipitants
Fructose ingestion trigger hypoglycemic episode 30-90 minutes later, with GI symptoms.
Provocation Tests
Fructose tolerance test IV 100-200 mg/kg will produce elevation of lactic acid and hypoglycemia. Response to glucagon is preserved.
Diagnostic Procedures
EB-liver. Benedict test positive (glucosuria negative). When patient is hypoglycemic, glucagon elevate the glycemia.