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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

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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, 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]

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

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)

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