Fructose-1,6-Bisphosphatase Deficiency

Common Name(s)

Fructose-1,6-Bisphosphatase Deficiency, Fructose-biphosphatase deficiency

Fructose-1,6-bisphosphatase deficiency is an inherited metabolic disorder in which the body cannot properly make glucose. Glucose is the main type of sugar in the blood and a primary source of energy for the body's cells. Without treatment, affected people can experience hypoglycemia and metabolic acidosis on fasting, episodes of hyperventilation, apnea, and ketosis. 

Fructose-1,6-bisphosphatase deficiency is inherited in an autosomal recessive manner. Inherited mutations in the FBP1 gene cause a deficiency of the enzyme fructose-1,6-bisphosphatase. This deficiency, in turn, results in impaired production of glucose.

This disorder can be treated by complete avoidance of fructose and its related sugars, as well as by avoiding prolonged periods of fasting. Typically, having of small amounts of fructose and related sugars may be tolerated in most patients with fructose-1,6-bisphosphatase deficiency. No other specific medical therapy is generally required.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Fructose-1,6-Bisphosphatase Deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Fructose-1,6-Bisphosphatase Deficiency" returned 7 free, full-text research articles on human participants. First 3 results:

A Chinese Adult Patient with Fructose 1,6-bisphosphatase Deficiency.
 

Author(s): Jing-Ru Lu, Cui Wang, Le-Ping Shao

Journal: Chin. Med. J.. 2017 08;130(16):2009-2010.

 

Last Updated: 31 Dec 1969

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Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency.
 

Author(s): Niu Li, Guoying Chang, Yufei Xu, Yu Ding, Guoqiang Li, Tingting Yu, Yanrong Qing, Juan Li, Yiping Shen, Jian Wang, Xiumin Wang

Journal:

 

Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare, autosomal recessive inherited disease caused by the mutation of the gene, the incidence is estimated to be between 1/350,000 and 1/900,000. The symptoms of affected individuals are non-specific and are easily confused with ...

Last Updated: 31 Dec 1969

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A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis.
 

Author(s): René Santer, Marcel du Moulin, Tatevik Shahinyan, Inga Vater, Esther Maier, Ania C Muntau, Beat Steinmann

Journal:

 

Fructose-1,6-bisphosphatase deficiency is a rare inborn error of metabolism affecting gluconeogenesis with only sporadic reports on its molecular genetic basis.

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Fructose-1,6-Bisphosphatase Deficiency" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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