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Fructose-1,6-Bisphosphatase Deficiency

What is Fructose-1,6-Bisphosphatase Deficiency?

Hommes, et al., defines FDPase deficiency as "a rare, presumably autosomal recessive disorder of gluconeogenesis. ... Clinical hallmarks of this disorder are hyperventilation, irritability, ketoacidosis, muscular hypotonia and hepatomegaly. Attacks are usually precipitated by fasting and intercurrent infections and can often be overcome by administration of sodium bicarbonate and glucose. Such attacks may, however, be life-threatening." (J. Inher. Metab. Dis. 8 (1985), pp. 169-173).

 

 

Hommes, et al., defines FDPase deficiency as "a rare, presumably autosomal recessive disorder of gluconeogenesis. ... Clinical hallmarks of this disorder are hyperventilation, irritability, ketoacidosis, muscular hypotonia and hepatomegaly. Attacks are usually precipitated by fasting and intercurrent infections and can often be overcome by administration of sodium bicarbonate and glucose. Such attacks may, however, be life-threatening." (J. Inher. Metab. Dis. 8 (1985), pp. 169-173).

 

Acknowledgement of Fructose-1,6-Bisphosphatase Deficiency has not been added yet.
Synonyms for Fructose-1,6-Bisphosphatase Deficiency has not been added yet.
Classified as an error of fructose metabolism.
Episodic spells of hyperventilation, apnea, hypoglycemia, ketosis, and lactic acidosis, with a precipitous and often lethal course in the newborn infant. Later episodes are often triggered by fasting and febrile infections. Due to the enzyme defect, gluconeogenesis is severely impaired. Gluconeogenic precursors such as amino acids, lactate, and ketones accumulate as soon as liver glycogen stores are depleted. Patients do not vomit after fructose intake and do not develop aversion to sweets. Tolerance to fasting grows with age.
Liver biopsy
Diagnostic tests of Fructose-1,6-Bisphosphatase Deficiency has not been added yet
Modified diet removing all fruit (including juices) and most vegetables. Eating plans reasonably high in grain/starchy carbs, aiming for low GI foods for blood sugar stability. In times of illness or high energy expenditure, administration of pure glucose - either intravenously or via powder/tablet - is recommended.
Patients past early childhood / puberty develop normally.
Tips or Suggestions of Fructose-1,6-Bisphosphatase Deficiency has not been added yet.
References of Fructose-1,6-Bisphosphatase Deficiency has not been added yet.
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CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.

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Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

Visit sanfordresearch.org/CoRDS to enroll.

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