Fructose bisphosphatase deficiency

Fructose bisphosphatase deficiency


Caption = Fructose 1,6-bisphosphate
Width = 175px
DiseasesDB = 5012
ICD10 = ICD10|E|74|1|e|70
ICD9 =
OMIM = 229700
MedlinePlus =
eMedicineSubj = ped
eMedicineTopic = 806
MeshID = D015319
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.


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, they 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.


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



*cite book | first = Salvatore | last = diMauro | coauthors = Darryl C. De Vivo | year = 1998 | month = October | title = Basic Neurochemistry: Molecular, Cellular and Medical Aspects | chapter = Diseases of Carbohydrate, Fatty Acid and Mitochondrial Metabolism | editor = George J. Siegel et al (ed.) | edition = 6th Edition | publisher = Lippincott Williams and Wilkins | location = Philadelphia, Pennsylvania | id = ISBN 0-7817-1745-0 | url =

Wikimedia Foundation. 2010.

Игры ⚽ Поможем написать реферат

Look at other dictionaries:

  • fructose-bisphosphatase — A hydrolase that catalyzes conversion of fructose 1,6 bisphosphate to d fructose 6 phosphate and orthophosphate in gluconeogenesis; AMP is an allosteric inhibitor; f. deficiency results in problems with impaired gluconeogenesis; there is a… …   Medical dictionary

  • fructose-16-bisphosphatase deficiency — fruc·tose 1,6 bis·phos·pha·tase de·fi·cien·cy (frookґtōs bis fosґfə tās″) an autosomal recessive disorder caused by mutations in the FBP1 gene (locus: 9q22.2 q22.3), which encodes hepatic fructose 1,6 bisphosphatase. It is… …   Medical dictionary

  • Fructose malabsorption — Classification and external resources Fructose ICD 10 E …   Wikipedia

  • Fructose 1,6-bisphosphatase — protein Name = fructose 1,6 bisphosphatase 1 caption = width = 200 HGNCid = 3606 Symbol = FBP1 AltSymbols = FBP EntrezGene = 2203 OMIM = 229700 RefSeq = NM 000507 UniProt = P09467 PDB = ECnumber = Chromosome = 9 Arm = q Band = 22.3… …   Wikipedia

  • fructose intolerance — inability to metabolize fructose, as in fructose 1,6 bisphosphatase deficiency …   Medical dictionary

  • Pyruvate carboxylase deficiency — Classification and external resources Oxaloacetate is the product of pyruvate carboxylase ICD 10 E …   Wikipedia

  • Galactose-1-phosphate uridylyltransferase deficiency — Classification and external resources Galactose ICD 10 E …   Wikipedia

  • Congenital disorder of glycosylation — Congenital disorders of glycosylation Classification and external resources ICD 10 E77.8 ICD 9 271.8 …   Wikipedia

  • Lactose intolerance — Classification and external resources Lactose (disaccharide of β D galactose β D glucose) is normally split by lactase. ICD 10 …   Wikipedia

  • Sucrose intolerance — Classification and external resources Sucrose ICD 10 E …   Wikipedia

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”