Fructose bisphosphatase deficiency: Difference between revisions

Jump to navigation Jump to search
m (Bot: Automated text replacement (-{{SIB}} + & -{{EJ}} + & -{{EH}} + & -{{Editor Join}} + & -{{Editor Help}} +))
No edit summary
 
Line 1: Line 1:
 
__NOTOC__
 
{{Infobox_Disease |
{{Infobox_Disease |
   Name          = {{PAGENAME}} |
   Name          = {{PAGENAME}} |
Line 17: Line 16:
}}
}}
{{SI}}
{{SI}}
{{CMG}}
==Overview==
==Overview==
In '''Fructose bisphosphatase deficiency''', there is not enough [[fructose bisphosphatase]] for [[gluconeogenesis]] to occur correctly. [[Glycolysis]] (the break-down of [[glucose]]) will still work, as it does not use this enzyme.
In '''Fructose bisphosphatase deficiency''', there is not enough [[fructose bisphosphatase]] for [[gluconeogenesis]] to occur correctly. [[Glycolysis]] (the break-down of [[glucose]]) will still work, as it does not use this enzyme.



Latest revision as of 17:02, 13 August 2012

Fructose bisphosphatase deficiency
Fructose 1,6-bisphosphate
ICD-10 E74.1
OMIM 229700
DiseasesDB 5012
eMedicine ped/806 
MeSH D015319

WikiDoc Resources for Fructose bisphosphatase deficiency

Articles

Most recent articles on Fructose bisphosphatase deficiency

Most cited articles on Fructose bisphosphatase deficiency

Review articles on Fructose bisphosphatase deficiency

Articles on Fructose bisphosphatase deficiency in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Fructose bisphosphatase deficiency

Images of Fructose bisphosphatase deficiency

Photos of Fructose bisphosphatase deficiency

Podcasts & MP3s on Fructose bisphosphatase deficiency

Videos on Fructose bisphosphatase deficiency

Evidence Based Medicine

Cochrane Collaboration on Fructose bisphosphatase deficiency

Bandolier on Fructose bisphosphatase deficiency

TRIP on Fructose bisphosphatase deficiency

Clinical Trials

Ongoing Trials on Fructose bisphosphatase deficiency at Clinical Trials.gov

Trial results on Fructose bisphosphatase deficiency

Clinical Trials on Fructose bisphosphatase deficiency at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Fructose bisphosphatase deficiency

NICE Guidance on Fructose bisphosphatase deficiency

NHS PRODIGY Guidance

FDA on Fructose bisphosphatase deficiency

CDC on Fructose bisphosphatase deficiency

Books

Books on Fructose bisphosphatase deficiency

News

Fructose bisphosphatase deficiency in the news

Be alerted to news on Fructose bisphosphatase deficiency

News trends on Fructose bisphosphatase deficiency

Commentary

Blogs on Fructose bisphosphatase deficiency

Definitions

Definitions of Fructose bisphosphatase deficiency

Patient Resources / Community

Patient resources on Fructose bisphosphatase deficiency

Discussion groups on Fructose bisphosphatase deficiency

Patient Handouts on Fructose bisphosphatase deficiency

Directions to Hospitals Treating Fructose bisphosphatase deficiency

Risk calculators and risk factors for Fructose bisphosphatase deficiency

Healthcare Provider Resources

Symptoms of Fructose bisphosphatase deficiency

Causes & Risk Factors for Fructose bisphosphatase deficiency

Diagnostic studies for Fructose bisphosphatase deficiency

Treatment of Fructose bisphosphatase deficiency

Continuing Medical Education (CME)

CME Programs on Fructose bisphosphatase deficiency

International

Fructose bisphosphatase deficiency en Espanol

Fructose bisphosphatase deficiency en Francais

Business

Fructose bisphosphatase deficiency in the Marketplace

Patents on Fructose bisphosphatase deficiency

Experimental / Informatics

List of terms related to Fructose bisphosphatase deficiency

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

In Fructose bisphosphatase deficiency, there is not enough fructose bisphosphatase for gluconeogenesis to occur correctly. Glycolysis (the break-down of glucose) will still work, as it does not use this enzyme.

Presentation

Without effective gluconeogenesis (GNG), hypoglycaemia will set in after about 12 hours. This is the time when liver glycogen stores have been exhausted, and the body has to rely on GNG. When given a dose of glucagon (which would normally increase blood glucose) nothing will happen, as stores are depleted and GNG doesn't work. (In fact, the patient would already have high glucagon levels.)

There is no problem with the metabolism of glucose or galactose, but fructose and glycerol cannot be used as fuels. If fructose or glycerol are given, there will be a build up of phosphorylated three-carbon sugars. This leads to phosphate depletion within the cells, and also in the blood. Without phosphate, ATP cannot be made, and many cell processes cannot occur.

High levels of glucagon will tend to release fatty acids from adipose tissue, and this will combine with glycerol that cannot be used in the liver, to make triacylglycerides causing a fatty liver.

As three carbon molecules cannot be used to make glucose, the will instead be made into pyruvate and lactate. These acids cause a drop in the pH of the blood (a metabolic acidosis). Acetyl CoA (acetyl co-enzyme A) will also build up, leading to the creation of ketone bodies.

Treatment

To treat people with a deficiency of this enzyme, they must avoid needing gluconeogenesis to make glucose. This can be accomplished by not fasting for long periods, and eating high-carbohydrate food. They should avoid fructose containing foods (as well as sucrose which breaks down to fructose).

As with all single-gene metabolic disorders, there is always hope for genetic therapy, inserting a healthy copy of the gene into existing liver cells.

See also

References

  • diMauro, Salvatore (1998). "Diseases of Carbohydrate, Fatty Acid and Mitochondrial Metabolism". In George J. Siegel et al (ed.). Basic Neurochemistry: Molecular, Cellular and Medical Aspects (6th Edition ed.). Philadelphia, Pennsylvania: Lippincott Williams and Wilkins. ISBN 0-7817-1745-0. Unknown parameter |month= ignored (help); Unknown parameter |coauthors= ignored (help)

Template:Metabolic pathology

Template:WikiDoc Sources