Fructose-1,6-Diphosphatase Deficiency (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
Networked: 24 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1. Glycogen Storage Disease (Glycogenosis)
2. Hypoglycemia (Reactive Hypoglycemia)
3. Propionic Acidemia
4. Fructose Intolerance (Intolerance, Fructose)
5. Inborn Urea Cycle Disorders


1. Santer, René: 1 article (09/2013)
2. Yunus, Zabedah: 1 article (09/2013)
3. Afroze, Bushra: 1 article (09/2013)
4. Steinmann, Beat: 1 article (09/2013)
5. Takagi, Dania: 1 article (01/2013)
6. Zeharia, Avraham: 1 article (01/2013)
7. Nemet, Dan: 1 article (01/2013)
8. Ben-Ari, Josef: 1 article (01/2013)
9. Eliakim, Alon: 1 article (01/2013)
10. Visser, Gepke: 1 article (02/2010)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Fructose-1,6-Diphosphatase Deficiency:
1. Glucose (Dextrose)FDA LinkGeneric
2. FructoseIBA
3. Fructose-BisphosphataseIBA
4. Glycerol (Glycerine)FDA LinkGeneric
5. Folic Acid (Vitamin M)FDA LinkGeneric
6. Succinic Acid (Succinate)IBA
7. Biological Markers (Surrogate Marker)IBA
8. Vitamin DFDA LinkGeneric
9. Uric Acid (Urate)IBA
10. UreaseIBA