Fructose-1,6-Diphosphatase 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.

Also Known As:

Fructose 1,6 Diphosphatase Deficiency; Fructose 1,6 Bisphosphatase Deficiency; Deficiency, Hexosediphosphatase; Fructosediphosphatase Deficiency; Deficiencies, Fructose-1,6-Bisphosphatase; Deficiencies, Fructose-1,6-Diphosphatase; Deficiencies, Fructose-Biphosphatase; Deficiencies, Fructosediphosphatase; Deficiencies, Hexosediphosphatase; Deficiency, Fructose-1,6-Bisphosphatase; Deficiency, Fructose-1,6-Diphosphatase; Deficiency, Fructose-Biphosphatase; Deficiency, Fructosediphosphatase; Fructose Biphosphatase Deficiency; Fructose-1,6-Bisphosphatase Deficiencies; Fructose-1,6-Diphosphatase Deficiencies; Fructose-Biphosphatase Deficiencies; Fructosediphosphatase Deficiencies; Hexosediphosphatase Deficiencies; Fructose-1,6-Bisphosphatase Deficiency; Fructose-Biphosphatase Deficiency; Hexosediphosphatase Deficiency

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Carbohydrate Metabolism
      - Inborn Errors Fructose Metabolism
        Fructose-1,6-Diphosphatase Deficiency: 33
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Carbohydrate Metabolism
      - Inborn Errors Fructose Metabolism
        Fructose-1,6-Diphosphatase Deficiency: 33

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