177 top medical experts on Fructose-1,6-Diphosphatase Deficiency across 22 countries and 2 U.S. states, including 7 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.
- 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.
- Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
- Broader Categories (#Experts): Inborn Errors Fructose Metabolism (31).
- Synonyms: Fructose-1,6-Bisphosphatase Deficiency, Fructose-Biphosphatase Deficiency, Hexosediphosphatase Deficiency
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