Disease Information for Fructose 1,6 diphosphatase deficiency (Clinical Manifestations)

Deficiencies Fructose 1 6 Bisphosphatase, Deficiencies Fructose 1 6 Diphosphatase, Deficiencies Fructose Biphosphatase, Deficiencies Fructosediphosphatase, Deficiency Fructose 1 6 Bisphosphatase, Deficiency Fructose 1 6 Diphosphatase, Deficiency Fructose Biphosphatase, Deficiency Fructosediphosphatase, FDP DEFIC, Fructose 1 6 bisphosphatas def, Fructose 1 6 Bisphosphatase Deficiencies, Fructose 1 6 Bisphosphatase Deficiency, Fructose 1 6 diphosphatase def, Fructose 1 6 Diphosphatase Deficiencies, Fructose 1 6 Diphosphatase Deficiency, fructose 1 phosphate aldolase deficiency, FRUCTOSE BIPHOSPHATASE DEFIC, Fructose Biphosphatase Deficiencies, Fructose Biphosphatase Deficiency, Fructose biphosphatase deficiency (disorder), FRUCTOSE BISPHOSPHATASE DEFICIENCY 01 06, FRUCTOSE DIPHOSPHATASE DEFIC, FRUCTOSE DIPHOSPHATASE DEFICIENCY 01 06, FRUCTOSEDIPHOSPHATASE DEFIC, Fructosediphosphatase Deficiencies, Fructosediphosphatase Deficiency, Hereditary fructose 1 6 phosphatase deficiency

An autosomal recessive fructose metabolism disorder due to absent or deficient fructose-1,6-diphosphatase activity. Gluconeogenesis is impaired, resulting in accumulation of gluconeogenic precursors (e.g., amino acids, lactate, ketones) and manifested as hypoglycemia, ketosis, and lactic acidosis. Episodes in the newborn infant are often lethal. Later episodes are often brought on by fasting and febrile infections. As patients age through early childhood, tolerance to fasting improves and development becomes normal.

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