スクラーゼ・ソマルターゼ欠損症
PrepTutorEJDIC
- 〈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
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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2015/12/05 20:12:49」(JST)
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Sucrose intolerance |
Sucrose
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Classification and external resources |
Specialty |
endocrinology |
ICD-10 |
E74.3 |
ICD-9-CM |
271.3 |
OMIM |
222900 |
DiseasesDB |
29844 |
Sucrose intolerance, also called congenital sucrase-isomaltase deficiency (CSID)[1] or sucrase-isomaltase deficiency,[2] is the condition in which sucrase, an enzyme needed for proper metabolism of sucrose (sugar), is not produced in the small intestine.
It is common among the Inupiat people.[3]
Contents
- 1 Overview
- 2 Signs and Symptoms of Sucrose Intolerance
- 3 See also
- 4 References
- 5 External links
Overview
Sucrose (also known as saccharose) is a disaccharide and is a two-sugar chain composed of glucose and fructose which are bonded together. A more familiar name is table, beet, or cane sugar. In most cases, sucrose intolerance is an autosomal recessive, genetic, metabolic disease, and involves deficiency in the enzyme sucrase, which breaks apart the glucose and fructose molecules. Monosaccharides, or single sugar units, are absorbed directly into the blood. When disaccharides are consumed, they must be broken down into monosaccharides by enzymes in the intestines before they can be absorbed. Sucrose can sometimes be found in the stool as an indication of an inability to digest and absorb sucrose in the body.
A deficiency of sucrase may result in malabsorption of sugar, which can lead to potentially serious symptoms. It is important for those with sucrose intolerance to minimize sucrose consumption as much as possible. Foods such as fruit and starch can help heal the body and reduce some symptoms.[citation needed] Supplements can be taken as a substitution of the enzyme missing or to introduce healthy bacteria into the immune system.
Sucrose intolerance (congenital sucrase-isomaltase enzyme deficiency) can be caused by genetic mutations in which both parents must contain this gene in order for the child to carry the disease. Sucrose intolerance can also be caused by irritable bowel syndrome, aging, or small intestine disease. There are specific tests used to determine sucrose intolerance. The most common tests are the sucrose breath test, genetic analysis or enzyme activity determination, which takes place in the small intestine.
Signs and Symptoms of Sucrose Intolerance
- Abdominal cramps and bloating
- Diarrhea and constipation
- Vomiting
- Hypoglycemia and headaches
- Poor weight gain and growth
- Upper respiratory tract and viral infections
- Anxiety and heart palpitations
- Excess gas production
See also
- Fructose malabsorption
- Gastroenterology
- Lactose intolerance
- Sucrase-isomaltase
References
- ^ Sander P, Alfalah M, Keiser M, et al. (January 2006). "Novel mutations in the human sucrase-isomaltase (SI) gene that cause congenital carbohydrate malabsorption". Hum. Mutat. 27 (1): 119. doi:10.1002/humu.9392. PMID 16329100.
- ^ Baudon JJ, Veinberg F, Thioulouse E, Morgant G, Aymard P, Charritat JL (April 1996). "Sucrase-isomaltase deficiency: changing pattern over two decades". J. Pediatr. Gastroenterol. Nutr. 22 (3): 284–8. doi:10.1097/00005176-199604000-00010. PMID 8708882.
- ^ Meier RJ, Draper H, Milan F (January 1991). "Pedigree analysis of sucrose intolerance among Native Alaskans". Arctic Med Res 50 (1): 8–12. PMID 2021397.
External links
- http://www.orphan-europe.com/sucrase_mangel_gb.html (broken link)
Inborn error of carbohydrate metabolism: monosaccharide metabolism disorders (including glycogen storage diseases) (E73–E74, 271)
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Sucrose, transport
(extracellular) |
Disaccharide catabolism |
- Lactose intolerance
- Sucrose intolerance
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Monosaccharide transport |
- Glucose-galactose malabsorption
- Inborn errors of renal tubular transport (Renal glycosuria)
- Fructose malabsorption
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Hexose → glucose |
Monosaccharide catabolism |
fructose: |
- Essential fructosuria
- Fructose intolerance
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galactose/galactosemia: |
- GALK deficiency
- GALT deficiency/GALE deficiency
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Glucose ⇄ glycogen |
Glycogenesis |
- GSD type 0, glycogen synthase
- GSD type IV, Andersen's, branching
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Glycogenolysis |
extralysosomal: |
- GSD type V, McArdle, muscle glycogen phosphorylase/GSD type VI, Hers', liver glycogen phosphorylase
- GSD type III, Cori's, debranching
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- lysosomal/LSD: GSD type II, Pompe's, glucosidase
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Glucose ⇄ CAC |
Glycolysis |
- MODY 2/HHF3
- GSD type VII, Tarui's, phosphofructokinase
- Triosephosphate isomerase deficiency
- Pyruvate kinase deficiency
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Gluconeogenesis |
- PCD
- Fructose bisphosphatase deficiency
- GSD type I, von Gierke, glucose 6-phosphatase
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Pentose phosphate pathway |
- Glucose-6-phosphate dehydrogenase deficiency
- Transaldolase deficiency
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Other |
- Hyperoxaluria
- Pentosuria
- Aldolase A deficiency
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Index of inborn errors of metabolism
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Description |
- Metabolism
- Enzymes and pathways: citric acid cycle
- pentose phosphate
- glycoproteins
- glycosaminoglycans
- phospholipid
- cholesterol and steroid
- sphingolipids
- eicosanoids
- amino acid
- urea cycle
- nucleotide
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Disorders |
- Citric acid cycle and electron transport chain
- Glycoprotein
- Proteoglycan
- Fatty-acid
- Phospholipid
- Cholesterol and steroid
- Eicosanoid
- Amino acid
- Purine-pyrimidine
- Heme metabolism
- Symptoms and signs
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Treatment |
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UpToDate Contents
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English Journal
- Congenital Sucrase-isomaltase Deficiency: A Novel Compound Heterozygous Mutation Causing Aberrant Protein Localization.
- Haberman Y1, Di Segni A, Loberman-Nachum N, Barel O, Kunik V, Eyal E, Kol N, Hout-Siloni G, Kochavi B, Avivi C, Schvimer M, Rechavi G, Anikster Y, Barshack I, Weiss B.
- Journal of pediatric gastroenterology and nutrition.J Pediatr Gastroenterol Nutr.2017 May;64(5):770-776. doi: 10.1097/MPG.0000000000001424.
- PMID 27749612
- Improved Starch Digestion of Sucrase Deficient Shrews Treated with Oral Glucoamylase Enzyme Supplements.
- Nichols BL1, Avery SE, Quezada-Calvillo R, Kilani SB, Lin AH, Burrin DG, Hodges BE, Chacko SK, Opekun AR, Hindawy ME, Hamaker BR, Oda SI.
- Journal of pediatric gastroenterology and nutrition.J Pediatr Gastroenterol Nutr.2017 Mar 6. doi: 10.1097/MPG.0000000000001561. [Epub ahead of print]
- PMID 28267073
- Molecular pathogenicity of novel sucrase-isomaltase mutations found in congenital sucrase-isomaltase deficiency patients.
- Gericke B1, Amiri M1, Scott CR2, Naim HY3.
- Biochimica et biophysica acta.Biochim Biophys Acta.2017 Mar;1863(3):817-826. doi: 10.1016/j.bbadis.2016.12.017. Epub 2017 Jan 3.
- PMID 28062276
Japanese Journal
- Molecular cloning of sucrase-isomaltase cDNA in the house musk shrew, Suncus murinus and identification of a mutation responsible for isolated sucrase deficiency
- Partial deletion of sucrase-isomaltase mRNA responsible for sucrase deficiency in a line of suncus murinus
- Environmental medicine : annual report of the Research Institute of Environmental Medicine, Nagoya University 41(2), 86-88, 1997-12
- NAID 110000065528
- Persistent diarrhea due to sucrase-isomaltase deficiency in a postoperative child with Hirschsprung's disease
Related Links
- Congenital sucrase-isomaltase deficiency is a disorder that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose and maltose. Sucrose (a sugar found in ...
- Congenital sucrase-isomaltase deficiency is a disorder that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose and maltose. Sucrose (a sugar found in fruits, and also ...
★リンクテーブル★
[★]
- 英
- sucrase-isomaltase deficiency
- 同
- 蔗糖イソマルトース分解酵素欠損症、蔗糖イソ麦芽糖吸収不全症 sucrose-isomaltose malabsorption
[★]
- 不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
- 欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの
- 関
- absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve
[★]
イソマルターゼ
- 関
- oligo-1,6-glucosidase