WordNet

a simple sugar found in honey and in many ripe fruits (同)fruit_sugar, levulose, laevulose

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〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥
〈U〉果糖

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/01/22 02:35:48」(JST)

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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 of fasting. 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.

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^{[citation needed]}.

References

diMauro, Salvatore; Darryl C. De Vivo (October 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. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Search&db=books&doptcmdl=GenBookHL&term=fructose+bisphosphatase+AND+bnchm%5Bbook%5D+AND+161340%5Buid%5D&rid=bnchm.section.2968#2971.

English Journal

Fructose-1,6-diphosphatase deficiency: a treatable neurometabolic disorder.

Kamate M1, Jambagi M1, Gowda P1, Sonoli S1.
BMJ case reports.BMJ Case Rep.2014 Sep 22;2014. pii: bcr2013201553. doi: 10.1136/bcr-2013-201553.
Fructose-1,6-diphosphatase (FDPase) deficiency is usually considered an inborn error of fructose metabolism, however, strictly speaking it is a defect of gluconeogenesis. The disorder is manifested by the appearance of hypoglycaemia, ketosis and lactic acidosis (neonatally or later during fasting or
PMID 25246452

An interesting newborn case of fructose 1-6 diphosphatase deficiency triggered after thyme juice ingestion.

Erol S1, Aydin B1, Dilli D1, Okumuş N2, Zenciroğlu A3, Gündüz M4.
Clinical laboratory.Clin Lab.2014;60(1):151-3.
Herbs have been used for centuries to prevent and control many diseases. The biggest challenge and problem is lack of information about the effect of herbs and its side effects. Thyme (thymus vulgaris) is a small shrubby plant with a strong, spicy taste, and odor. Thyme has carminative, diaphoretic,
PMID 24600990

Novel fructose-1,6-bisphosphatase gene mutation in two siblings.

Eren E1, Edgunlu T, Abuhandan M, Yetkin I.
DNA and cell biology.DNA Cell Biol.2013 Nov;32(11):635-9. doi: 10.1089/dna.2013.2119. Epub 2013 Sep 5.
Fructose-1,6-bisphosphatase (FBPase) deficiency is an autosomal, recessively inherited disease that progresses with severe hypoglycemia, and metabolic attacks result in a defect in gluconeogenesis. If not appropriately treated, and if fructose is not excluded from the diet, the outcome could be fata
PMID 24007283

Japanese Journal

Rapid, simplified and sensitive method for screening fructose-1, 6-diphosphatase deficiency by analyzing urinary metabolites in urease/direct preparations and gas chromatography-mass spectrometry in the selected-ion monitoring mode

IGA Misako,KIMURA Masahiko,OHURA Toshihiro,KIKAWA Yoshiharu,YAMAGUCHI Seiji
Journal of chromatography. B, Biomedical applications 746(1), 75-82, 2000-09-01
NAID 10012267937

Rapid, simplified and sensitive method for screening fructose-1,6-diphosphatase deficiency by analyzing urinary metabolites in urease/direct preparations and gas chromatography-mass spectrometry in the selected-ion monitoring mode

IGA Misako,KIMURA Masahiko,OHURA Toshihiro,KIKAWA Yoshiharu,YAMAGUCHI Seiji
Journal of chromatography. B, Biomedical sciences and applications 746(1), 75-82, 2000-09-01
NAID 10009992668

Fructose-1, 6-diphosphatase欠損症例の生化学的検討および遺伝子解析

佐野正,植田昭仁,立木秀樹,荒川武,村上吉男,岩田厚司
日本小児科学会雑誌 102(4), 410-415, 1998-04-01
NAID 10005655050

Related Pictures

★リンクテーブル★

リンク元	「フルクトース-1,6-ビスホスファターゼ欠損症」「fructose-1,6-bisphosphatase deficiency」
関連記事	「deficiency」「fructose」

「フルクトース-1,6-ビスホスファターゼ欠損症」

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