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Genetic and Rare Diseases Information Center (GARD)

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Fructose-1,6-bisphosphatase deficiency


Other Names for this Disease

  • Baker-Winegrad disease
  • Fructose 1,6 diphosphatase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

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.
Last updated: 9/19/2014

References

  1. Fructose-1,6-bisphosphatase deficiency. Online Mendelian Inheritance in Man (OMIM). Last edited: 10/12/2010; http://omim.org/entry/229700. Accessed 9/19/2014.
  2. Sinha S. Fructose 1,6-Diphosphatase Deficiency. Medscape Reference. Last updated: 11/25/2013; http://emedicine.medscape.com/article/943882-overview. Accessed 9/19/2014.
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  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Fructose-1,6-bisphosphatase deficiency. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Baker-Winegrad disease
  • Fructose 1,6 diphosphatase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.